In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Myofibrillar myopathies (MFMs) are an expanding and increasingly recognized group of neuromuscular disorders caused by mutations in DES, CRYAB, MYOT, and ZASP. The latest gene to be associated with MFM was FLNC; a p.W2710X mutation in the 24th immunoglobulin-like repeat of filamin C was shown to be...

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Главные авторы: Shatunov, Alexey, Olivé, Montse, Odgerel, Zagaa, Stadelmann-Nessler, Christine, Irlbacher, Kerstin, van Landeghem, Frank, Bayarsaikhan, Munkhuu, Lee, Hee-Suk, Goudeau, Bertrand, Chinnery, Patrick F, Straub, Volker, Hilton-Jones, David, Damian, Maxwell S, Kaminska, Anna, Vicart, Patrick, Bushby, Kate, Dalakas, Marinos C, Sambuughin, Nyamkhishig, Ferrer, Isidro, Goebel, Hans H, Goldfarb, Lev G
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2009
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2672961/
https://ncbi.nlm.nih.gov/pubmed/19050726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.226
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