Article
A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.
Neuromuscular disorders : NMD - 1 Jan 2011
Ravenscroft Gianina, Wilmshurst Jo M, Pillay Komala, Sivadorai Padma, Wallefeld William, Nowak Kristen J, Laing Nigel G
Abstract excerpt
We describe a severe congenital myopathy patient of Xhosa native African origin with a novel de novo p.Gly152Ala skeletal muscle α-actin gene (ACTA1) mutation, who died at 6 months of age. The muscle pathology demonstrated abundant cytoplasmic and intranuclear rods, core-like areas and the unusual feature of larger type I than type II fibres. Our results further expand the phenotypes associated with ACTA1...
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