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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance
Neuromuscular Disorders, Volume 21, No. 1, Year 2011
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Description
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. © 2010.
Authors & Co-Authors
Ravenscroft, Gina
Australia, Perth
The Harry Perkins Institute of Medical Research
Wilmshurst, J. Madeleine
South Africa, Cape Town
University of Cape Town
Pillay, Komala
South Africa, Cape Town
University of Cape Town
Sivadorai, Padma
Australia, Perth
Royal Perth Hospital
Wallefeld, William
Australia, Perth
The Harry Perkins Institute of Medical Research
Nowak, Kristen J.
Australia, Perth
The Harry Perkins Institute of Medical Research
Laing, Nigel G.
Australia, Perth
The Harry Perkins Institute of Medical Research
Statistics
Citations: 23
Authors: 7
Affiliations: 3
Identifiers
Doi:
10.1016/j.nmd.2010.08.005
ISSN:
09608966
Research Areas
Cancer
Genetics And Genomics
Health System And Policy