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The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members Cover

The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members

Open Access
|Oct 2015

References

  1. 1. WICKLUND MP, KISSEL JT. The limb-girdle muscular dystrophies. Neurol Clin 2014; 32(3): 729-49.10.1016/j.ncl.2014.04.00525037088
  2. 2. WALTON J, NATRASS F. On the classification, natural history and treatment of the myopathies. Brain. 1954; 77:169-231.10.1093/brain/77.2.16913190076
  3. 3. BARESI R. From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies. Skeletal Muscle. 2011; 1:24.10.1186/2044-5040-1-24315664721798100
  4. 4. MAHMOOD O, JIANG XM. Limb-girdle muscular dystrophies: Where next after six decades from the first proposal. Mol Med Rep, 2014; 9(5): 1515-1532.10.3892/mmr.2014.2048402049524626787
  5. 5. NIGRO V, SAVARESE M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myologica 2014; 32: 1-12.
  6. 6. COTTA A, CARVALHO E, LOPES DA-CUNHA A, et al. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? Arq Neuropsiquiatr, 2014; 72(9): 721-734.10.1590/0004-282X20140110
  7. 7. NORWOOD FL, HARLING C, CHINNERY PF, EAGLE M, BUSHBY K, STRAUB V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009; 132: 3175-3186.10.1093/brain/awp236403849119767415
  8. 8. GOMEZ-DIAZ B, ROSAS-VARGAS H, ROQUE-RAMIREZ B, et al. Immunodetection analysis of muscular dystrophies in Mexico. Muscle Nerve. 2012; 45: 338-345.10.1002/mus.2231422334167
  9. 9. DINIZ G, ERYAŞAR G, TÜRE S, et al. A regional panorama of dysferlinopathies. Turk Patoloji Derg. 2012; 28: 259-265.10.5146/tjpath.2012.0113323011829
  10. 10. FANIN M, NASCIMBENI AC, FULIZIO L, et al. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscul Disord 2005; 15:218-24.10.1016/j.nmd.2004.11.00315725583
  11. 11. STEHLÍKOVÁ K, SKÁLOVÁ D, ZÍDKOVÁ J, MRÁZOVÁL, MAZANEC R, VOHANKA S, HABERLOVA J, HERMANOVA M, ZAMECNIK J, SOUCEK O, OŠLEJŠKOVÁ H, DVOŘÁČKOVÁ N, SOLAROVA P, FAJKUSOVÁ L. Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC Neurology 2014, 14:154.10.1186/s12883-014-0154-7414525025135358
  12. 12. ZATZ M, DE PAULA F, STARLING A, VAINZOF M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscular disorders, 2003; 13: 532-544.10.1016/S0960-8966(03)00100-7
  13. 13. PENISSON-BESNIER I, HACKMAN P, SUOMINEN T, et al. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. J Neurol Neurosurg Psychiatry 2010; 81:1200-2.10.1136/jnnp.2009.17843420571043
  14. 14. HALLIDAY W, GREENBERG CR, WROGEMANN K, et al. Genetic heterogeneity of limb girdle muscular dystrophy in Manitoba Hutterites. Am J Hum Genet 1998; 63 (Suppl): A 392.
  15. 15. SHOKEIR MH, KOBRINSKY NL. Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet. 1976; 9(2): 197-202.
  16. 16. WEILER T, GREENBERG CR, ZELINSKI T, et al. Limb Girdle Muscular Dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another LGMD locus. Am J Hum Genet. 1998; 63: 140-7.10.1086/30192513772469634523
  17. 17. REILICH P, KRAUSE S, SCHRAMM N, et al. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol 2011; 258:1437-44.10.1007/s00415-011-5953-921336781
  18. 18. HAUSER MA, HORRIGAN SK, SALMIKANGAS P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet, 2000; 9:2141-7.10.1093/hmg/9.14.214110958653
  19. 19. SALMIKANGAS P, VAN DER VEN PF, LALOWSKI M, TAIVAINEN A, ZHAO F, SUILA H, SCHRÖDER R, LAPPALAINEN P, FÜRST DO, CARPÉN O. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet. 2003; 12(2): 189-203.10.1093/hmg/ddg02012499399
  20. 20. MUCHIR A, BONNE G, VAN DER KOOI AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000; 9:1453-9.10.1093/hmg/9.9.145310814726
  21. 21. LAVAL SH, BUSHBY KM. Limb-girdle muscular dystrophies-from genetics to molecular pathology. Neuropathol Appl Neurobiol. 2004; 30(2):91-105.10.1111/j.1365-2990.2004.00555.x15043707
  22. 22. POLITANO L, CARBONI N, MADEJ-PILARCZYK A, et al. Advances in basic and clinical research in laminopathies. Acta Myol, 2013; 32:18-22.
  23. 23. COUCHOUX H, BICHRAOUI H, CHOUABE C, ALTAFAJ X, BONVALLET R, ALLARD B, RONJAT M, BERTHIER C. Caveolin-3 is a direct molecular partner of the Cav 1.1 subunit of the skeletal muscle L-type calcium channel. The International Journal of Biochemistry & Cell Biology, 2011; 43 (5): 713-720. 10.1016/j.biocel.2011.01.01121262376
  24. 24. GAZZERRO E, SOTGIA F, BRUNO C, LISANTI MP, MINETTI C. Caveolinopathies: from the biology of caveolin-3 to human diseases. European Journal of Human Genetics. 2010; 18: 137-145.10.1038/ejhg.2009.103298718319584897
  25. 25. LO HP, BERTINI E, MIRABELLA M, DOMAZETOVSKA A, DALE RC, PETRINI S, D’AMICO A, VALENTE EM, BARRESI R, ROBERTS M, TOZZI G, TASCA G, COOPER ST, et al. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular Disorders, 2011; 21 (3): 194-203.10.1016/j.nmd.2010.11.01521295981
  26. 26. MINETTI C, SOTGIA F, BRUNO C, SCARTEZZINI P, BRODA P, BADO M, MASETTI E, MAZZOCCO M, EGEO A, DONATI M A, VOLONTÉ D, GALBIATI F, CORDONE G, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genetics, 1998; 18: 365-368.10.1038/ng0498-3659537420
  27. 27. CARBONE I, BRUNO C, SOTGIA F, BADO M, BRODA P, MASETTI E, PANELLA A, ZARA F, BRICARELLI FD, CORDONE G, LISANTI MP, MINETTI C. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology.2000; 54(6):1373-6.10.1212/WNL.54.6.137310746614
  28. 28. MERLINI L, CARBONE I, CAPANNI C, SABATELLI P, TORTORELLI S, LISANTI MP, BRUNO C, MINETTI C. Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. J Neurol Neurosurg Psychiatry. 2002; 73(1):65-7.10.1136/jnnp.73.1.65175730512082049
  29. 29. WOODMAN SE, SOTGIA F, GALBIATI F, MINETTI C, LISANTI MP. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology.2004 ; 62(4): 538-43.10.1212/WNL.62.4.538
  30. 30. PETERLE E, FANIN M, SEMPLICINI C, et al. Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. J Neurol, 2013; 260:2033-41.10.1007/s00415-013-6931-123632945
  31. 31. VIEIRA NM, NASLAVSKY MS, LICINIO L, et al. A defect in the RNAprocessing protein HNRPDL causes limb-girdle muscular dystrophy1G (LGMD1G). Hum Mol Genet 2014. [Epub ahead of print]10.1093/hmg/ddu12724647604
  32. 32. STARLING A, KOK F, PASSOS-BUENO MR, et al. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 2004; 12: 1033-40.10.1038/sj.ejhg.520128915367920
  33. 33. BISCEGLIA L, ZOCCOLELLA S, TORRACO A, et al. A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. Eur J Hum Genet 2010; 18: 636-41.10.1038/ejhg.2009.235298733620068593
  34. 34. FARDEAU M, HILLAIRE D, MIGNARD C, FEINGOLD N, FEINGOLD J, MIGNARD D, DE UBEDA B, COLLIN H, TOME FM, RICHARD I, BECKMANN J. Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996; 119: 295-308.10.1093/brain/119.1.2958624690
  35. 35. PATHAK P, SHARMA MC, SARKAR C, et al. Limb-girdle muscular dystrophy type 2A in India: a study based on semiquantitative protein analysis, with clinical and histopathological correlation. Neurol India, 2010; 58: 549-54.10.4103/0028-3886.68675
  36. 36. WEILER T, BASHIR R, ANDERSON LV, et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene (s). Hum Mol Genet, 1999; 8:871-7.10.1093/hmg/8.5.871
  37. 37. CACCIOTTOLO M, NUMITONE G, AURINO S, et al. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet. 2011; 19:974-80.10.1038/ejhg.2011.70
  38. 38. NOGUCHI S, MCNALLY EM, BEN OTHMANE K, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome13 muscular dystrophy. Science. 1995; 270:819-22.10.1126/science.270.5237.819
  39. 39. LIM LE, DUCLOS F, BROUX O, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995; 11:257-65.10.1038/ng1195-257
  40. 40. ROBERDS SL, LETURCQ F, ALLAMAND V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78:625-33.10.1016/0092-8674(94)90527-4
  41. 41. MOREIRA ES, WILTSHIRE TJ, FAULKNER G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000; 24:163-6.10.1038/7282210655062
  42. 42. LOCKE M, TINSLEY CL, BENSON MA, et al. TRIM32 is an E3 ubiquitin ligase for dysbindin. Hum Mol Genet 2009; 18:2344-58.10.1093/hmg/ddp167269468619349376
  43. 43. FROSK P, WEILER T, NYLEN E, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 2002; 70: 663-72.10.1086/33908344762111822024
  44. 44. BROWN SC, TORELLI S, BROCKINGTON M, YUVA Y, JIMENEZ C, FENG L, ANDERSON L, UGO I, KROGER S, BUSHBY K, VOIT T, SEWRY C, MUNTONI F. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies, American Journal of Pathology, 2004, 164 (2):727-37.
  45. 45. LIANG W-C, HAYASHI YK, OGAWA M, WANG C-H, HUANG W-T, NISHINO I, JONG Y-J. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. Neuromuscular Disorders, 2013, 23 (8): 675-681.10.1016/j.nmd.2013.05.01023800702
  46. 46. BROCKINGTON M, BLAKE DJ, PRANDINI P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet, 2001; 69:1198-209.10.1086/324412123555911592034
  47. 47. MERCURI E, BROCKINGTON M, STRAUB V, et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. AnnNeurol, 2003; 53:537-42.10.1002/ana.1055912666124
  48. 48. GERULL B, GRAMLICH M, ATHERTON J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002; 30:201-4.10.1038/ng81511788824
  49. 49. CHONG YK, KWAN MA LC, LO KL, LAI LEE CK, MAK CM, CHI KAN AN, LAM CW. Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy. European Journal of Paediatric Neurology, 2014 [Epub ahead of print].10.1016/j.ejpn.2014.03.00324657014
  50. 50. BEHIN A, LETURCQ F, COSSÉE M, WAHBI K, DEBURGRAVE N, BÉCANE H-M, CARLIER R-Y, LAFORÊT P, STOJKOVIC T, CARLIER P, EYMARD B. Anoctamin 5 myopathy: More patients, more phenotypes. Journal of the Neurological Sciences, 2013, 333 (Suppl. 1): e47. 10.1016/j.jns.2013.07.1598
  51. 51. BOLDUC V, MARLOW G, BOYCOTT KM, SALEKI K, INOUE H, KROON J, ITAKURA M, ROBITAILLE Y, PARENT L, BAAS F, et al. Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies. The American Journal of Human Genetics. 2010; 86:213-221.10.1016/j.ajhg.2009.12.013282017020096397
  52. 52. BOUQUET F, COSSEE M, BEHIN A, DEBURGRAVE N, ROMERO N, LETURCQ F, EYMARD B. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene (Myopathie de type Miyoshi associée à des mutations du gène de l’anoctamine 5). Revue Neurologique. 2012; 168 (2): 135-141.10.1016/j.neurol.2011.10.00522336395
  53. 53. HICKS D, SARKOZY A, MUELAS N, KÖEHLER K, HUEBNER A, HUDSON G, CHINNERY PF, BARRESI R, EAGLE M, et al. A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy. Brain. 2011; 134 (1): 171-182.10.1093/brain/awq294403851221186264
  54. 54. LITTLE A, MCKEEVER P, GRUIS K. Novel mutations in the anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L. Muscle & Nerve, 2013; 47 (2): 287-291.10.1002/mus.2354223169617
  55. 55. MAGRI F, DEL BO R, D’ANGELO MG, SCIACCO M, GANDOSSINI S, GOVONI A, NAPOLI L, CISCATO P, et al. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscular Disorders, 2012; 22 (11): 934-943.10.1016/j.nmd.2012.05.001350069222742934
  56. 56. MAHJNEH I, JAISWAL J, LAMMINEN A, SOMER M, MARLOW G, KIURU-ENARI S, BASHIR R. A new distal myopathy with mutation in anoctamin 5. Neuromuscular Disorders, 2010; 20 (12): 791-795.10.1016/j.nmd.2010.07.270420677620692837
  57. 57. RAJ JOSHI P, GLÄSER D, DREßEL C, KRESS W, WEIS J, DESCHAUER M. Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping. Neuromuscular Disorders, 2014; 24 (1): 43-47.10.1016/j.nmd.2013.09.00324239059
  58. 58. SARKOZY A, HICKS D, HUDSON J, LAVAL SH, BARRESI R, HILTON-JONES D, DESCHAUER M, HARRIS E, et al. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Human Mutation. 2013; 34 (8): 1111-1118.10.1002/humu.2234223606453
  59. 59. SCHESSL J, KRESS W, SCHOSER B. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy, 2012; Muscle & Nerve, 45 (5): 740-742.10.1002/mus.2328122499103
  60. 60. WAHL CM, VAN GHELUE M, ARNTZEN KA, HALVORSEN H, INGEBRIGTSEN M, SKOGSTAD A, HESTHOLM B, LØSETH S, MELLGREN SI, RASMUSSEN F, LINDAHL S, JONSRUD C. Mutations in anoctamin 5 in limb girdle muscular dystrophy in Norway: Phenotypic variability and mutation spectrum. Journal of the Neurological Sciences, 2013; 333 (SUPPL. 1): E444.10.1016/j.jns.2013.07.1589
  61. 61. WITTING N, DUNO M, PETRI H, KRAG T, BUNDGAARD H, KOBER L, VISSING J. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. Journal of Neurology, 2013; 260 (8): 2084-2093.10.1007/s00415-013-6934-y23670307
  62. 62. TIAN Y, SCHREIBER R, KUNZELMANN K. Anoctamins are a family of Ca2+-activated Cl- channels. J Cell Sci; 125:4991-8.
  63. 63. MERCURI E, MESSINA S, BRUNO C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology, 2009; 72: 1802-9.10.1212/01.wnl.0000346518.68110.6019299310
  64. 64. PUCKETT RL, MOORE SA, WINDER TL, et al. Further evidence of Fukutin mutations as a cause of childhood onset limbgirdle muscular dystrophy without mental retardation. Neuromuscul Disord, 2009; 19:352-6.10.1016/j.nmd.2009.03.001269859319342235
  65. 65. BIANCHERI R, FALACE A, TESSA A, et al. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem Biophys Res Commun, 2007; 363:1033-7.10.1016/j.bbrc.2007.09.06617923109
  66. 66. PANE M, MESSINA S, VASCO G, FOLEY AR, MORANDI L, PEGORARO E, MONGINI T, D’AMICO A, BIANCO F, LOMBARDO ME, SCALISE R, BRUNO C, BERARDINELLI A, et al. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscular Disorders, 2012; 22 (8): 685-689.10.1016/j.nmd.2012.05.006347653222727687
  67. 67. CLEMENT EM, GODFREY C, TAN J, et al. Mild POMGNT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol, 2008; 65:137-41.10.1001/archneurol.2007.218195152
  68. 68. RADUCU M, BAETS J, FANO O, et al. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limbgirdle muscular dystrophy type 20. Eur J Hum Genet, 2012.10.1038/ejhg.2012.40342112522419172
  69. 69. GODFREY C, FOLEY AR, CLEMENT E, MUNTONI F. Dystroglycanopathies: coming into focus, Current Opinion in Genetics & Development. 2011; 21 (3): 278-285.
  70. 70. HARA Y, BALCI-HAYTA B, YOSHIDA-MORIGUCHI T, KANAGAWA M, BELTRÁN-VALERO DE BERNABÉ D, GÜNDEŞLI H, WILLER T, SATZ JS, CRAWFORD RW, et al. A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy. New Engl. J. Med. 2011; 364(10): 939-946.
  71. 71. GUNDESLI H, TALIM B, KORKUSUZ P, et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet 2010; 87:834-41.10.1016/j.ajhg.2010.10.017299737321109228
  72. 72. CETIN N, BALCI-HAYTA B, GUNDESLI H, et al. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet 2013; 50:437-43.10.1136/jmedgenet-2012-10148723687351
  73. 73. BOGERSHAUSEN N, SHAHRZAD N, CHONG JX, et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle musculardystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet; 93:181-90. 87:834-41.10.1016/j.ajhg.2013.05.028371075723830518
  74. 74. SCRIVENS PJ, SHAHRZAD N, MOORES A, et al. TRAPPC2L is a novel, highly conserved TRAPP-interacting protein. Traffic 2009; 10:724-36.10.1111/j.1600-0854.2009.00906.x19416478
  75. 75. CARSS KJ, STEVENS E, FOLEY AR, CIRAK, RIEMERSMA M, TORELLI S, HOISCHEN A, WILLER T, VAN SCHERPENZEEL M, MOORE SA, et al. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb- Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. The American Journal of Human Genetics. 2013; 93 (1): 29-41.10.1016/j.ajhg.2013.05.009371076823768512
  76. 76. CIRAK S, FOLEY AR, HERRMANN R, WILLER T, YAU S, STEVENS E, TORELLI S, BRODD L, KAMYNINA A, VONDRACEK P, ROPER H, LONGMAN C, KORINTHENBERG R. et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain 2013; 136(1): 269-281. 10.1093/brain/aws312356207623288328
  77. 77. GUGLIERI M, BUSHBY K. How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India, 2008; 56: 271-80.10.4103/0028-3886.4344518974553
  78. 78. WICKLUND MP, KISSEL JT. The limb-girdle muscular dystrophies. Neurol Clin 2014; 32(3):729-49.10.1016/j.ncl.2014.04.00525037088
  79. 79. WALTON J, NATRASS F. On the classification, natural history and treatment of the myopathies. Brain. 1954; 77:169-231.10.1093/brain/77.2.169
  80. 80. BARESI R. From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies. Skeletal Muscle. 2011; 1:24.10.1186/2044-5040-1-24
  81. 81. MAHMOOD O, JIANG XM. Limb-girdle muscular dystrophies: Where next after six decades from the first proposal. Mol Med Rep, 2014; 9(5): 1515-1532.10.3892/mmr.2014.2048
  82. 82. NIGRO V, SAVARESE M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myologica 2014; 32: 1-12.
  83. 83. COTTA A, CARVALHO E, LOPES DA-CUNHA A, et al. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? Arq Neuropsiquiatr, 2014; 72(9):721-734.10.1590/0004-282X20140110
  84. 84. NORWOOD FL, HARLING C, CHINNERY PF, EAGLE M, BUSHBY K, STRAUB V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009; 132:3175-3186.10.1093/brain/awp236
  85. 85. GOMEZ-DIAZ B, ROSAS-VARGAS H, ROQUE-RAMIREZ B, et al. Immunodetection analysis of muscular dystrophies in Mexico. Muscle Nerve. 2012; 45:338-345.10.1002/mus.22314
  86. 86. DINIZ G, ERYAŞAR G, TÜRE S, et al. A regional panorama of dysferlinopathies. Turk Patoloji Derg. 2012; 28: 259-265.10.5146/tjpath.2012.01133
  87. 87. FANIN M, NASCIMBENI AC, FULIZIO L, et al. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscul Disord 2005; 15:218-24.10.1016/j.nmd.2004.11.003
  88. 88. STEHLÍKOVÁ K, SKÁLOVÁ D, ZÍDKOVÁ J, MRÁZOVÁ L, MAZANEC R, VOHANKA S, HABERLOVA J, HERMANOVA M, ZAMECNIK J, SOUCEK O, OŠLEJŠKOVÁ H, DVOŘÁČKOVÁ N, SOLAROVA P, FAJKUSOVÁ L. Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC Neurology 2014, 14:154.10.1186/s12883-014-0154-7
  89. 89. ZATZ M, DE PAULA F, STARLING A, VAINZOF M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscular disorders, 2003; 13: 532-544.10.1016/S0960-8966(03)00100-7
  90. 90. PENISSON-BESNIER I, HACKMAN P, SUOMINEN T, et al. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. J Neurol Neurosurg Psychiatry 2010; 81:1200-2.10.1136/jnnp.2009.17843420571043
  91. 91. HALLIDAY W, GREENBERG CR, WROGEMANN K, et al. Genetic heterogeneity of limb girdle muscular dystrophy in Manitoba Hutterites. Am J Hum Genet 1998; 63 (Suppl): A 392.
  92. 92. SHOKEIR MH, KOBRINSKY NL. Autosomal recessive muscular dystrophy in Manitoba Hutterites. Clin Genet. 1976; 9(2): 197-202.
  93. 93. WEILER T, GREENBERG CR, ZELINSKI T, et al. Limb Girdle Muscular Dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another LGMD locus. Am J Hum Genet. 1998; 63: 140-7.10.1086/30192513772469634523
  94. 94. REILICH P, KRAUSE S, SCHRAMM N, et al. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol 2011; 258:1437-44.10.1007/s00415-011-5953-921336781
  95. 95. HAUSER MA, HORRIGAN SK, SALMIKANGAS P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet, 2000; 9:2141-7.10.1093/hmg/9.14.214110958653
  96. 96. SALMIKANGAS P, VAN DER VEN PF, LALOWSKI M, TAIVAINEN A, ZHAO F, SUILA H, SCHRÖDER R, LAPPALAINEN P, FÜRST DO, CARPÉN O. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet. 2003; 12(2): 189-203.10.1093/hmg/ddg02012499399
  97. 97. MUCHIR A, BONNE G, VAN DER KOOI AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limbgirdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000; 9:1453-9.10.1093/hmg/9.9.145310814726
  98. 98. LAVAL SH, BUSHBY KM. Limb-girdle muscular dystrophies-from genetics to molecular pathology. Neuropathol Appl Neurobiol.2004; 30(2): 91-105.10.1111/j.1365-2990.2004.00555.x15043707
  99. 99. POLITANO L, CARBONI N, MADEJ-PILARCZYK A, et al. Advances in basic and clinical research in laminopathies. Acta Myol, 2013; 32:18-22.
  100. 100. COUCHOUX H, BICHRAOUI H, CHOUABE C, ALTAFAJ X, BONVALLET R, ALLARD B, RONJAT M, BERTHIER C. Caveolin-3 is a direct molecular partner of the Cav 1.1 subunit of the skeletal muscle L-type calcium channel. The International Journal of Biochemistry & Cell Biology, 2011; 43 (5): 713-720.10.1016/j.biocel.2011.01.01121262376
  101. 101. GAZZERRO E, SOTGIA F, BRUNO C, LISANTI MP, MINETTI C. Caveolinopathies: from the biology of caveolin-3 to human diseases. European Journal of Human Genetics. 2010; 18: 137-145.10.1038/ejhg.2009.103298718319584897
  102. 102. LO HP, BERTINI E, MIRABELLA M, DOMAZETOVSKA A, DALE RC, PETRINI S, D’AMICO A, VALENTE EM, BARRESI R, ROBERTS M, TOZZI G, TASCA G, COOPER ST, et al. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular Disorders, 2011; 21 (3): 194-203.10.1016/j.nmd.2010.11.01521295981
  103. 103. MINETTI C, SOTGIA F, BRUNO C, SCARTEZZINI P, BRODA P, BADO M, MASETTI E, MAZZOCCO M, EGEO A, DONATI M A, VOLONTÉ D, GALBIATI F, CORDONE G, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genetics, 1998; 18: 365-368.10.1038/ng0498-3659537420
  104. 104. CARBONE I, BRUNO C, SOTGIA F, BADO M, BRODA P, MASETTI E, PANELLA A, ZARA F, BRICARELLI FD, CORDONE G, LISANTI MP, MINETTI C. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology. 2000; 54(6):1373-6.10.1212/WNL.54.6.137310746614
  105. 105. MERLINI L, CARBONE I, CAPANNI C, SABATELLI P, TORTORELLI S, LISANTI MP, BRUNO C, MINETTI C. Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. J Neurol Neurosurg Psychiatry. 2002; 73(1):65-7.10.1136/jnnp.73.1.65175730512082049
  106. 106. WOODMAN SE, SOTGIA F, GALBIATI F, MINETTI C, LISANTI MP. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology.2004 ; 62(4):538-43. 10.1212/WNL.62.4.538
  107. 107. PETERLE E, FANIN M, SEMPLICINI C, et al. Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. J Neurol, 2013; 260:2033-41.10.1007/s00415-013-6931-123632945
  108. 108. VIEIRA NM, NASLAVSKY MS, LICINIO L, et al. A defect in the RNA processing protein HNRPDL causes limb-girdle muscular dystrophy1G (LGMD1G). Hum Mol Genet 2014 [Epub ahead of print].10.1093/hmg/ddu12724647604
  109. 109. STARLING A, KOK F, PASSOS-BUENO MR, et al. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 2004; 12: 1033-40.10.1038/sj.ejhg.520128915367920
  110. 110. BISCEGLIA L, ZOCCOLELLA S, TORRACO A, et al. A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. Eur J Hum Genet 2010; 18: 636-41.10.1038/ejhg.2009.235298733620068593
  111. 111. FARDEAU M, HILLAIRE D, MIGNARD C, FEINGOLD N, FEINGOLD J, MIGNARD D, DE UBEDA B, COLLIN H, TOME FM, RICHARD I, BECKMANN J. Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996; 119: 295-308.10.1093/brain/119.1.2958624690
  112. 112. PATHAK P, SHARMA MC, SARKAR C, et al. Limb girdle muscular dystrophy type 2A in India: a study based on semiquantitative protein analysis, with clinical and histopathological correlation. Neurol India, 2010; 58:549-54.10.4103/0028-3886.6867520739790
  113. 113. WEILER T, BASHIR R, ANDERSON LV, et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene (s). Hum Mol Genet, 1999; 8:871-7.10.1093/hmg/8.5.871
  114. 114. CACCIOTTOLO M, NUMITONE G, AURINO S, et al. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet. 2011; 19:974-80.10.1038/ejhg.2011.70
  115. 115. NOGUCHI S, MCNALLY EM, BEN OTHMANE K, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome13 muscular dystrophy. Science. 1995; 270:819-22.10.1126/science.270.5237.819
  116. 116. LIM LE, DUCLOS F, BROUX O, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995; 11:257-65.10.1038/ng1195-257
  117. 117. ROBERDS SL, LETURCQ F, ALLAMAND V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78:625-33.10.1016/0092-8674(94)90527-4
  118. 118. MOREIRA ES, WILTSHIRE TJ, FAULKNER G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000;24:163-6.10.1038/72822
  119. 119. LOCKE M, TINSLEY CL, BENSON MA, et al. TRIM32 is an E3 ubiquitin ligase for dysbindin. Hum Mol Genet 2009; 18:2344-58.10.1093/hmg/ddp167
  120. 120. FROSK P, WEILER T, NYLEN E, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 2002; 70: 663-72.10.1086/339083
  121. 121. BROWN SC, TORELLI S, BROCKINGTON M, YUVA Y, JIMENEZ C, FENG L, ANDERSON L, UGO I, KROGER S, BUSHBY K, VOIT T, SEWRY C, MUNTONI F. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. American Journal of Pathology, 2004, 164 (2):727-37.10.1016/S0002-9440(10)63160-4
  122. 122. LIANG W-C, HAYASHI YK, OGAWA M, WANG C-H, HUANG W-T, NISHINO I, JONG Y-J. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan, Neuromuscular Disorders, 2013, 23 (8): 675-681.
  123. 123. BROCKINGTON M, BLAKE DJ, PRANDINI P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet, 2001; 69:1198-209.10.1086/324412123555911592034
  124. 124. MERCURI E, BROCKINGTON M, STRAUB V, et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. AnnNeurol, 2003; 53:537-42.10.1002/ana.1055912666124
  125. 125. GERULL B, GRAMLICH M, ATHERTON J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy,Nat Genet 2002; 30:201-4.
  126. 126. CHONG YK, KWAN MA LC, LO KL, LAI LEE CK, MAK CM, CHI KAN AN, LAM CW. Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy. European Journal of Paediatric Neurology, 2014 [Epub ahead of print].10.1016/j.ejpn.2014.03.00324657014
  127. 127. BEHIN A, LETURCQ F, COSSÉE M, WAHBI K, DEBURGRAVE N, BÉCANE H-M, CARLIER R-Y, LAFORÊT P, STOJKOVIC T, CARLIER P, EYMARD B. Anoctamin 5 myopathy: More patients, more phenotypes. Journal of the Neurological Sciences, 2013, 333 (Suppl. 1): e47.10.1016/j.jns.2013.07.1598
  128. 128. BOLDUC V, MARLOW G, BOYCOTT KM, SALEKI K, INOUE H., KROON J, ITAKURA M, ROBITAILLE Y, PARENT L, BAAS F, et al. Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies. The American Journal of Human Genetics. 2010; 86:213-221.10.1016/j.ajhg.2009.12.013282017020096397
  129. 129. BOUQUET F, COSSEE M, BEHIN A, DEBURGRAVE N, ROMERO N, LETURCQ F, EYMARD B. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene (Myopathie de type Miyoshi associée à des mutations du gène de l’anoctamine 5). Revue Neurologique. 2012; 168 (2): 135-141.10.1016/j.neurol.2011.10.00522336395
  130. 130. HICKS D, SARKOZY A, MUELAS N, KÖEHLER K, HUEBNER A, HUDSON G, CHINNERY PF, BARRESI R, EAGLE M, et al. A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy. Brain. 2011; 134 (1): 171-182.10.1093/brain/awq294403851221186264
  131. 131. LITTLE A, MCKEEVER P, GRUIS K. Novel mutations in the anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L. Muscle & Nerve, 2013; 47 (2): 287-291.10.1002/mus.2354223169617
  132. 132. MAGRI F, DEL BO R, D’ANGELO MG, SCIACCO M, GANDOSSINI S, GOVONI A, NAPOLI L, CISCATO P, et al. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscular Disorders, 2012; 22 (11): 934-943.10.1016/j.nmd.2012.05.001350069222742934
  133. 133. MAHJNEH I, JAISWAL J, LAMMINEN A, SOMER M, MARLOW G, KIURU-ENARI S, BASHIR R. A new distal myopathy with mutation in anoctamin 5. Neuromuscular Disorders, 2010; 20 (12): 791-795.10.1016/j.nmd.2010.07.270420677620692837
  134. 134. RAJ JOSHI P, GLÄSER D, DREßEL C, KRESS W, WEIS J, DESCHAUER M. Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping. Neuromuscular Disorders, 2014; 24 (1): 43-47. 10.1016/j.nmd.2013.09.00324239059
  135. 135. SARKOZY A, HICKS D, HUDSON J, LAVAL SH, BARRESI R, HILTON-JONES D, DESCHAUER M, HARRIS E, et al. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Human Mutation. 2013; 34 (8): 1111-1118.10.1002/humu.2234223606453
  136. 136. SCHESSL J, KRESS W, SCHOSER B. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 2012; Muscle & Nerve, 45 (5): 740-742.
  137. 137. WAHL CM, VAN GHELUE M, ARNTZEN KA, HALVORSEN H, INGEBRIGTSEN M, SKOGSTAD A, HESTHOLM B, LØSETH S, MELLGREN SI, RASMUSSEN F, LINDAHL S, JONSRUD C. Mutations in anoctamin 5 in limb girdle muscular dystrophy in Norway: Phenotypic variability and mutation spectrum. Journal of the Neurological Sciences, 2013; 333 (SUPPL. 1): E444.10.1016/j.jns.2013.07.1589
  138. 138. WITTING N, DUNO M, PETRI H, KRAG T, BUNDGAARD H, KOBER L, VISSING J. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. Journal of Neurology, 2013; 260 (8): 2084-2093.10.1007/s00415-013-6934-y23670307
  139. 139. TIAN Y, SCHREIBER R, KUNZELMANN K. Anoctamins are a family of Ca2+-activated Cl- channels. J Cell Sci; 125:4991-8.
  140. 140. MERCURI E, MESSINA S, BRUNO C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology, 2009;72: 1802-9.10.1212/01.wnl.0000346518.68110.6019299310
  141. 141. PUCKETT RL, MOORE SA, WINDER TL, et al. Further evidence of Fukutin mutations as a cause of childhood onset limbgirdle muscular dystrophy without mental retardation. Neuromuscul Disord, 2009;19:352-6.10.1016/j.nmd.2009.03.001269859319342235
  142. 142. BIANCHERI R, FALACE A, TESSA A, et al. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. Biochem Biophys Res Commun, 2007; 363:1033-7.10.1016/j.bbrc.2007.09.06617923109
  143. 143. PANE M, MESSINA S, VASCO G, FOLEY AR, MORANDI L, PEGORARO E, MONGINI T, D’AMICO A, BIANCO F, LOMBARDO ME, SCALISE R., BRUNO C, BERARDINELLI A, et al. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscular Disorders, 2012; 22 (8): 685-689.10.1016/j.nmd.2012.05.006347653222727687
  144. 144. CLEMENT EM, GODFREY C, TAN J, et al. Mild POMGNT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol, 2008; 65:137-41.10.1001/archneurol.2007.218195152
  145. 145. RADUCU M, BAETS J, FANO O, et al. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limbgirdle muscular dystrophy type 20. Eur J Hum Genet, 2012.10.1038/ejhg.2012.40342112522419172
  146. 146. GODFREY C, FOLEY AR, CLEMENT E, MUNTONI F. Dystroglycanopathies: coming into focus. Current Opinion in Genetics & Development. 2011; 21 (3): 278-285.10.1016/j.gde.2011.02.00121397493
  147. 147. HARA Y, BALCI-HAYTA B, YOSHIDA-MORIGUCHI T, KANAGAWA M, BELTRÁN-VALERO DE BERNABÉ D, GÜNDEŞLI H, WILLER T, SATZ JS, CRAWFORD RW, et al. A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy. New Engl. J. Med. 2011; 364(10): 939-946.
  148. 148. GUNDESLI H, TALIM B, KORKUSUZ P, et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet 2010; 87:834-41.10.1016/j.ajhg.2010.10.017299737321109228
  149. 149. CETIN N, BALCI-HAYTA B, GUNDESLI H, et al. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet 2013; 50:437-43.10.1136/jmedgenet-2012-10148723687351
  150. 150. BOGERSHAUSEN N, SHAHRZAD N, CHONG JX, et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet; 93:181-90. 87:834-41.10.1016/j.ajhg.2013.05.028371075723830518
  151. 151. SCRIVENS PJ, SHAHRZAD N, MOORES A, et al. TRAPPC2L is a novel, highly conserved TRAPP-interacting protein. Traffic 2009; 10:724-36.10.1111/j.1600-0854.2009.00906.x19416478
  152. 152. CARSS KJ, STEVENS E, FOLEY AR, CIRA K, RIEMERSMA M, TORELLI S, HOISCHEN A, WILLER T, VAN SCHERPENZEEL M, MOORE SA, et al. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb- Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. The American Journal of Human Genetics. 2013; 93 (1): 29-41.10.1016/j.ajhg.2013.05.009371076823768512
  153. 153. CIRAK S, FOLEY AR, HERRMANN R, WILLER T, YAU S, STEVENS E, TORELLI S, BRODD L, KAMYNINA A, VONDRACEK P, ROPER H, LONGMAN C, KORINTHENBERG R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain 2013; 136(1): 269-281.10.1093/brain/aws312356207623288328
  154. 154. GUGLIERI M, BUSHBY K. How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India, 2008; 56:271-80. 10.4103/0028-3886.4344518974553
DOI: https://doi.org/10.1515/rjim-2015-0002 | Journal eISSN: 2501-062X | Journal ISSN: 1220-4749
Language: English
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Submitted on: Feb 10, 2015
Published on: Oct 7, 2015
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