The Folkhälsan Institute of Genetics and The Department of Medical Genetics, University of Helsinki, Haartman Institute, Finland.
Neuromuscul Disord. 2011 Aug;21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2.
Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease. We have previously reported a nonspecific distal myopathy caused by homozygous missense mutations in the nebulin gene in six Finnish patients from four different families. Here we describe three non-Finnish patients in two unrelated families with distal nemaline myopathy caused by four different compound heterozygous nebulin mutations, only one of which is a missense mutation. One of the mutations has previously been identified in one family with the severe form of nemaline myopathy. We conclude that nemaline myopathy and distal myopathy caused by nebulin mutations form a clinical and histological continuum. Nemaline myopathy should be considered as a differential diagnosis in patients presenting with an early-onset predominantly distal myopathy.
肌联蛋白基因突变是常染色体隐性肌营养不良的主要原因，临床表现从轻度到重度疾病不等。我们之前曾报道过六名来自四个不同家庭的芬兰患者因肌联蛋白基因纯合错义突变导致的非特异性远端肌病。在此，我们描述了两个无血缘关系的家庭中的三名非芬兰患者，他们患有远端肌营养不良，由四种不同的复合杂合肌联蛋白突变引起，其中只有一种是错义突变。其中一个突变之前在一个患有严重型肌营养不良的家庭中被发现。我们的结论是，由肌联蛋白突变引起的肌营养不良和远端肌病构成了一个临床和组织学上的连续体。在出现早期主要为远端肌病的患者中，应考虑肌营养不良作为鉴别诊断。
