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...
Topics
- Actins
- Alanine
- Cell Line, Transformed
- DNA Mutational Analysis
- Female
- Glycine
- Green Fluorescent Proteins
- Humans
- Infant
- Intranuclear Inclusion Bodies
- Microscopy, Electron, Transmission
- Muscle, Skeletal
- Mutation
- Myopathies, Nemaline