Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3079443 | Neuromuscular Disorders | 2011 | 6 Pages |
Abstract
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 mutations and provide support for the hypothesis that the structural abnormalities seen are a pathological continuum dependent on the precise mutation and biopsy location. Our results also demonstrate the likely world-wide distribution of de novo mutations in this gene.
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Authors
Gianina Ravenscroft, Jo M. Wilmshurst, Komala Pillay, Padma Sivadorai, William Wallefeld, Kristen J. Nowak, Nigel G. Laing,