Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia.
Neuromuscul Disord. 2011 Jan;21(1):31-6. doi: 10.1016/j.nmd.2010.08.005. Epub 2010 Sep 17.
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.
我们描述了一名来自南非科萨族的严重先天性肌病患者，该患者携带一种新的从头发生的骨骼肌α-肌动蛋白基因（ACTA1）p.Gly152Ala 突变，该患者于 6 月龄时死亡。肌肉病理学表现为丰富的细胞质和核内杆状结构、核心样区域以及Ⅰ型纤维比Ⅱ型纤维更大的异常特征。我们的研究结果进一步扩展了与 ACTA1 突变相关的表型，并为以下假说提供了支持，即所观察到的结构异常是一种依赖于精确突变和活检部位的病理连续体。我们的研究结果还表明，该基因的从头突变可能在全球范围内分布。
