|
|||||
|
|
A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance |
|
| Authors: | Gianina Ravenscroft Jo M WilmshurstKomala Pillay Padma SivadoraiWilliam Wallefeld Kristen J NowakNigel G Laing |
| Institution: | a Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia b Paediatric Neurology and Neurophysiology, The University of Cape Town and the Red Cross Children’s Hospital, Cape Town, South Africa c National Health Laboratory Services, University of Cape Town and the Red Cross Children’s Hospital, Cape Town, South Africa d Neurogenetics, Royal Perth Hospital, Perth, Australia |
| 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. |
| Keywords: | Nemaline myopathy Intranuclear rods ACTA1 |
| 本文献已被 ScienceDirect 等数据库收录！ | |