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

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.

DOI: 10.1016/j.nmd.2010.08.005

Cite this paper

@article{Ravenscroft2011ANA, title={A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.}, author={Gianina Ravenscroft and Jo M. Wilmshurst and Komala Pillay and Padma Sivadorai and William Wallefeld and Kristen Jean Nowak and Nigel G Laing}, journal={Neuromuscular disorders : NMD}, year={2011}, volume={21 1}, pages={31-6} }