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

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...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy:	Shatunov, A, Olivé, M, Odgerel, Z, Stadelmann-Nessler, C, Irlbacher, K, van Landeghem, F, Bayarsaikhan, M, Lee, H, Goudeau, B, Chinnery, P, Straub, V, Hilton-Jones, D, Damian, MS, Kaminska, A, Vicart, P, Bushby, K, Dalakas, M, Sambuughin, N, Ferrer, I, Goebel, H, Goldfarb, L
Format:	Journal article
Język:	English
Wydane:	2009

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