Have a personal or library account? Click to login
Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion Cover

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Open Access
|Dec 2018

References

  1. Gourdon G, Meola G. Myotonic dystrophies: State of the art of new therapeutic developments for the CNS. Front Cell Neurosci. 2017; 11: 101.
  2. Finsterer J, Stöllberger C. Myotonic dystrophy-1 complicated by factor-v (Leyden) mutation. Case Rep Med. 2015; 2015: 271639.
  3. Mohamed S, Pruna L, Kaminsky P. Increasing risk of tumors in myotonic dystrophy type 1. Presse Med. 2013; 42(9): e281-e284.
  4. Dalvin LA, Shields CL, Pulido JS, Sioufi K, Cohen V, Shields JA. Uveal melanoma associated with myotonic dystrophy: A report of 6 cases. JAMA Ophthalmol. 2018; 136(5): 543-547.
  5. Marcoval J, Olive M, Bonfill-Orti M, Martinez-Molina L, Talavera-Belmonte A. Cutaneous neoplasms in myotonic dystrophy type 1. Dermatology. 2016; 232(6): 700-703.
  6. Campione E, Botta A, Di Prete M, Rastelli E, Gibellini M, Petrucci A, et al. Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis. Neuromuscul Disord. 2017; 27(2): 163-169.
  7. Win AK, Perattur PG, Pulido JS, Pulido CM, Lindor NM. Increased cancer risks in myotonic dystrophy. Mayo Clin Proc. 2012; 87(2): 130-135.
  8. Finsterer J. Myotonic dystrophy type 1 and 2. In: Burgess VN, Editor. Progress in Muscular Dystrophy Research. Hauppauge, NY, USA: Nova Science Publishers. 2005; 149-180. (ISBN: 1-59454-375-5.)
  9. Addeo A, Bini R, Viora T, Bonaccorsi L, Leli R. Von Hippel-Lindau and myotonic dystrophy of Steinert along with pancreatic neuroendocrine tumor and renal clear cell carcinomal neoplasm: Case report and review of the literature. Int J Surg Case Rep. 2013; 4(8): 648-650.
  10. Mavridou P, Dimitriou V, Margaritis A, Manataki A. Anesthesia for laparoscopic surgery in a patient with myotonic dystrophy (Steinert’s disease): Beneficial use of sugammadex, but incorrect use of pethidine: A case report. Acta Anaesthesiol Belg 2011; 62(2): 101-104.
Language: English
Page range: 39 - 43
Published on: Dec 31, 2018
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2018 J Finsterer, C Stöllberger, A Reining-Festa, M Loewe-Grgurin, M Gencik, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.