A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

作者:Ravenscroft Gianina*; Wilmshurst Jo M; Pillay Komala; Sivadorai Padma; Wallefeld William; Nowak Kristen J; Laing Nigel G
来源:Neuromuscular Disorders, 2011, 21(1): 31-36.
DOI:10.1016/j.nmd.2010.08.005

摘要

We describe a severe congenital myopathy patient of Xhosa native African origin with a novel de novo p.Gly152Ala skeletal muscle alpha-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 1 than type 11 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.