一种肌营养不良蛋白错义突变，表现为肌营养不良蛋白和肌营养不良蛋白相关蛋白持续存在，但具有严重表型。
A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.
作者信息
Goldberg L R, Hausmanowa-Petrusewicz I, Fidzianska A, Duggan D J, Steinberg L S, Hoffman E P
机构信息
Department of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, PA 15261, USA.
出版信息
Ann Neurol. 1998 Dec;44(6):971-6. doi: 10.1002/ana.410440619.
A muscle biopsy from an X-linked muscular dystrophy pedigree showed normal dystrophin and dystrophin-associated proteins. Linkage to multiple markers within the dystrophin gene (LOD=2.7, theta=0) indicated a primary dystrophinopathy. Sequencing of the entire dystrophin RNA revealed a single missense mutation (D3335H) in the unique carboxyl-terminal domain. This is the first report showing that a relatively severe dystrophinopathy can occur despite the correct localization of dystrophin and dystrophin-associated proteins.
对一个X连锁型肌营养不良家系进行的肌肉活检显示，肌营养不良蛋白和肌营养不良蛋白相关蛋白正常。与肌营养不良蛋白基因内多个标记的连锁分析（LOD=2.7，θ=0）表明存在原发性肌营养不良蛋白病。对整个肌营养不良蛋白RNA进行测序，发现在独特的羧基末端结构域有一个单错义突变（D3335H）。这是第一份报告显示，尽管肌营养不良蛋白和肌营养不良蛋白相关蛋白定位正确，但仍可发生相对严重的肌营养不良蛋白病。
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