References
- 1. Emery A, Muntoni F. Duchenne muscular dystrophy. 3rd ed. New York, NY: Oxford University Press, 2003.
- 2. Cotton S, Voudouris NJ, Greenwood KM. Intelligence and Duchenne muscular dystrophy: Full-scale, verbal, and performance intelligence quotients. Dev Med Child Neurol. 2001; 43(7): 497-501.
- 3. Cotton S, Voudouris N, Douglas J. Key findings from a meta-analytical study on intellectual functions in Duchenne muscular dystrophy. J Intell Disabil Res. 2000; 44(3-4): 248-248.
- 4. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987; 50(3): 509-517.
- 5. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988; 2(1): 90-95.
- 6. Lidov HG, Byers TJ, Watkins SC, Kunkel LM. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature. 1990; 348(6303): 725-728.
- 7. Tokarz SA, Duncan NM, Rash SM, Sadeghi A, Dewan AK, Pillers DA. Redefinition of dystrophin isoform distribution in mouse tissue by RTPCR implies role in nonmuscle manifestations of duchenne muscular dystrophy. Mol Genet Metab. 1998; 65(4): 272-281.
- 8. Anderson JL, Head SI, Rae C, Morley JW. Brain function in Duchenne muscular dystrophy. Brain. 2002; 125(1): 4-13.
- 9. Perronnet C, Vaillend C. Dystrophins, utrophins, and associated scaffolding complexes: Role in mammalian brain and implications for therapeutic strategies. J Biomed Biotechnol. 2010; 2010: 849426. doi: 10.1155/2010/ 849426.
- 10. Pillers DA, Bulman DE, Weleber RG, Sigesmund DA, Musarella MA, Powell BR, et al. Dystrophin expression in the human retina is required for normal function as defined by electroretinography. Nat Genet. 1993; 4(1): 82-86.
- 11. Lidov HG, Selig S, Kunkel LM. Dp140: A novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet. 1995; 4(3): 329-335.
- 12. Byers TJ, Lidov HG, Kunkel LM. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet. 1993; 4(1): 77-81.
- 13. Bar S, Barnea E, Levy Z, Neuman S, Yaffe D, Nudel U. A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution. Biochem J. 1990; 272(2): 557-560.
- 14. Taylor PJ, Betts GA, Maroulis S, Gilissen C, Pedersen RL, Mowat DR, et al. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One. 2010; 5(1): e8803. doi: 10.1371/ journal.pone.0008803.
- 15. Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, et al. Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet. 2009; 18(20): 3779-3794.
- 16. Tozawa T, Itoh K, Yaoi T, Tando S, Umekage M, Dai H, et al. The shortest isoform of dystrophin (Dp40) interacts with a group of presynaptic proteins to form a presumptive novel complex in the mouse brain. Mol Neu-robiol. 2012; 45(2): 287-297.
- 17. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification. Nucleic Acids Res. 2002; 30(12): e57. doi: 10.1093/nar/gnf056.
- 18. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988; 16(23): 11141-11156.
- 19. Beggs AH, Koenig M, Boyce FM, Kunkel LM.Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990; 86(1): 45-48.
- 20. Kunkel LM, Snyder JR, Beggs AH, Boyce FM, Feener CA. Searching for dystrophin gene deletions in patients with atypical presentations. In: Lindsten J, Petterson U, Eds. Etiology of Human Diseases at the DNA Level. New York, NY: Raven Press. 1991: 51-61.
- 21. Den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat. 2000; 15(1): 7-12.
- 22. Bushby KM, Appleton R, Anderson LV, Welch JL, Kelly P, Gardner-Medwin D. Deletion status and intellectual impairment in Duchenne muscular dystrophy. Dev Med Child Neurol. 1995; 37(3): 260-269.
- 23. Desguerre I, Christov C, Mayer M, Zeller R, Becane HM, Bastuji-Garin S, et al. Clinical heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One. 2009; 4(2): e4347. doi: 10.1371/ ournal.pone.0004347.
- 24. Wechsler D. Manual for the Wechsler Intelligence Scale for Children, 3rd ed. New York, NY: Psychological Corporation, 1991.
- 25. Brunet O, Lezine PUF. Le Developpement Psychologique del al Premiere Enfance. Issy-les- Moulineaux. France: Editions Scientifiques et Psychotechniques, 1951.
- 26. Doll EA. Vineland Social Maturity Scale. Oxford, UK: Educational Test Bureau, 1947.
- 27. Hinton VJ, Fee RJ, Goldstein EM, De Vivo DC. Verbal and memory skills in males with Duchenne muscular dystrophy. Dev Med Child Neurol. 2007; 49(2): 123-128.
- 28. D’Angelo MG, Lorusso ML, Civati F, Comi GP, Magri F, Del Bo R, et al. Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site. Pediatr Neurol. 2011; 45(5): 292-299.
- 29. Wingeier K, Giger E, Strozzi S, Kreis R, Joncourt F, Conrad B, et al. Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy. J Clin Neurosci. 2011; 18(1): 90-95.
- 30. Lorusso ML, Civati F, Molteni M, Turconi AC, Bresolin N, D’Angelo MG. Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy. Child Neuropsychol. 2013; 19(4): 350-369.
- 31. Chamova T, Guergueltcheva V, Raycheva M, Todorov T, Genova F, Bichev S, et al. Association between loss of Dp140 and cognitive impairment in Du-henne and Becker dystrophies. Balkan J Med Genet. 2013; 16(1): 21-30.
- 32. Knuesel I, Bornhauser BC, Zuellig RA, Heller F, Schaub MC, Fritschy JM. Differential expression of utrophin and dystrophin in CNS neurons: An in situ hybridization and immunohistochemical study. J Comp Neurol. 2000; 422(4): 594-611.
- 33. Sekiguchi M, Zushida K, Yoshida M, Maekawa M, Kamichi S, Yoshida M, et al. A deficit of brain dystrophin impairs specific amygdala GABAergic transmission and enhances defensive behaviour in mice. Brain. 2009; 132(1): 124-135.
- 34. Moizard MP, Toutain A, Fournier D, Berret F, Raynaud M, Billard C, et al. Severe cognitive impairment in DMD: Obvious clinical indication for Dp71 isoform point mutation screening. Eur J Hum Genet. 2000; 8(7): 552-556.
- 35. Moizard MP, Billard C, Toutain A, Berret F, Marmin N, Moraine C. Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? Am J Med Genet. 1998; 80(1): 32-41.
- 36. Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T. Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006; 14(6): 701-713.
- 37. Felisari G, Martinelli Boneschi F, Bardoni A, Sironi M, Comi GP, Robotti M, et al. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology. 2000; 55(4): 559-564.
- 38. Haenggi T, Soontornmalai A, Schaub MC, Fritschy JM. The role of utrophin and Dp71 for assembly of different dystrophin-associated protein complexes (DPCs) in the choroid plexus and microvasculature of the brain. Neuroscience. 2004; 129(2): 403-413.
- 39. Jung D, Yang B, Meyer J, Chamberlain JS, Campbell KP. Identification and characterization of the dystrophin anchoring site on β-dystroglycan. J Biol Chem. 1995; 270(45): 27305-27310.
- 40. Sigelman C, Rider EA. Life-Span Human Development, 7th ed. Belmont, CA: Wadsworth Cengage Learning, 2012.
- 41. Wu JY, Kuban KC, Allred E, Shapiro F, Darras BT. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol. 2005; 20(10): 790-795.
- 42. Ferlini A, Neri M, Gualandi F. The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice. Neuromusc Disord. 2013; 23(1): 4-14.