Laing N G
Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Nedlands, Australia.
Curr Opin Neurol. 1999 Oct;12(5):513-8. doi: 10.1097/00019052-199910000-00004.
The most important advances in sarcomeric protein diseases continue to be the identification of mutated genes responsible for human diseases. These have recently included those that encode skeletal muscle alpha-actin in autosomal dominant and autosomal recessive nemaline myopathy, nebulin and slow alpha-tropomyosin in autosomal recessive nemaline myopathy, and desmin and alpha B-crystallin in desminopathies.
肌节蛋白疾病最重要的进展仍然是对导致人类疾病的突变基因的识别。最近发现的此类基因包括：常染色体显性和常染色体隐性棒状肌病中编码骨骼肌α-肌动蛋白的基因、常染色体隐性棒状肌病中编码伴肌动蛋白和慢α-原肌球蛋白的基因，以及结蛋白病中编码结蛋白和αB-晶状体蛋白的基因。
