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...

Bibliografske podrobnosti
Main Authors:	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
Jezik:	English
Izdano:	2009

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