MYH7 mutation associated with two phenotypes of myopathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
http://link.springer.com/article/10.1007/s10072-017-3192-2/fulltext.html
Reference24 articles.
1. Jaenicke T, Diederich KW, Haas W, Schleich J, Lichter P, Pfordt M, Bach A, Vosberg HP (1990) The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics 8(2):194–206. https://doi.org/10.1016/0888-7543(90)90272-V
2. Walsh R, Rutland C, Thomas R, Loughna S (2010) Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations. Cardiology 115(1):49–60. https://doi.org/10.1159/000252808
3. Yüceyar N, Ayhan Ö, Karasoy H, Tolun A (2015) Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. Neuromuscul Disord 25(4):340–344. https://doi.org/10.1016/j.nmd.2015.01.007
4. Naddaf E and Waclawik, Andrew J. (2015) Two Families With MYH7 Distal Myopathy Associated With Cardiomyopathy and Core Formations. J Clin Neuromusc Dis 16(3):164–169 https://doi.org/10.1097/CND.0000000000000069
5. Muelas N, Hackman P, Luque H, Garces-Sanchez M, Azorin I, Suominen T, Sevilla T, Mayordomo F, Gomez L, Marti P, Maria Millan J, Udd B, Vilchez JJ (2010) MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology 75(8):732–741. https://doi.org/10.1212/WNL.0b013e3181eee4d5
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