Miyoshi-like distal myopathy with mutations in anoctamin 5 gene
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene
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DOI：
10.1016/j.neurol.2011.10.005
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发表时间：
2012-02-01
影响因子：
3
通讯作者：
Eymard, B.
中科院分区：
文献类型：
--
作者：
Bouquet, F.;Cossee, M.;Eymard, B.
Miyoshi肌病是隐性远端肌病最常见的形式。最近在北方欧洲发现ANO5基因的隐性突变是非dysferlin相关的远端肌病和肢带型肌营养不良症的原因。我们在这里报告的第一个法国案件anoctamin 5肌病在2兄弟提出了一个Miyoshi样模式。将这些患者与文献中的其他12例病例进行比较，结果显示所有病例均具有相同的临床模式，其特征为初始小腿肌肉受累。不对称性肌肉萎缩往往先于虚弱。在这种情况下，高CK水平和肌肉中dysferlin的正常表达应考虑诊断，这将通过ANO5基因检测确认。c.191dupA突变，已被报道为一个创始人突变的高加索患者与anoctamin肌病，被发现在我们的家庭在一个杂合子状态。(C)2012年Elsevier Masson SAS。All rights reserved.
Miyoshi myopathy is the most common form of recessive distal myopathy. Recessive mutations in the ANO5 gene have been recently identified in Northern Europe as a cause of non dysferlin-linked distal myopathy and limb girdle muscular dystrophy. We report here the first French cases of anoctamin 5 myopathy in 2 brothers presenting with a Miyoshi-like pattern. Comparing these patients with 12 other cases from the literature shows that all cases share a homogeneous clinical pattern, characterized by initial calf muscles involvement. Asymmetric muscle atrophy often precedes weakness. In this setting, high CK level and normal expression of dysferlin in muscle should lead to consider the diagnosis, which will be confirmed by ANO5 gene testing. The c.191dupA mutation, already reported as a founder mutation in Caucasian patients with anoctamin myopathies, was found in our family in a heterozygous state. (C) 2012 Elsevier Masson SAS. All rights reserved.