title: 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.
authors.affiliation: Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia. gina.ravenscroft@uwa.edu.au
authors.forename: Gianina
authors.initials: G
authors.lastname: Ravenscroft
authors.forename: Jo M
authors.initials: JM
authors.lastname: Wilmshurst
authors.forename: Komala
authors.initials: K
authors.lastname: Pillay
authors.forename: Padma
authors.initials: P
authors.lastname: Sivadorai
authors.forename: William
authors.initials: W
authors.lastname: Wallefeld
authors.forename: Kristen J
authors.initials: KJ
authors.lastname: Nowak
authors.forename: Nigel G
authors.initials: NG
authors.lastname: Laing
mesh_terms: D000199:Actins / Q000235:genetics*; D000409:Alanine / Q000235:genetics; D002461:Cell Line, Transformed / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D005260:Female; D005998:Glycine / Q000235:genetics; D049452:Green Fluorescent Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D045586:Intranuclear Inclusion Bodies / Q000473:pathology / Q000648:ultrastructure; D046529:Microscopy, Electron, Transmission; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology*; D014162:Transfection / Q000379:methods
chemical_list: D000199:Actins; C485184:enhanced green fluorescent protein; D049452:Green Fluorescent Proteins; D000409:Alanine; D005998:Glycine