Article
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
American journal of human genetics - 1 Jun 2001
Ilkovski B, Cooper S T, Nowak K, Ryan M M, Yang N, Schnell C, Durling H J, Roddick L G, Wilkinson I, Kornberg A J, Collins K J, Wallace G, Gunning P, Hardeman E C, Laing N G, North K N
Abstract excerpt
Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal muscle. Disease-causing mutations have been reported in five genes, each encoding a protein component of the sarcomeric thin filament. Recently, we identified mutations in the muscle alpha-skeletal-actin gene (ACTA1) in a subset of patients with NM....
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