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[2个常染色体显性遗传为主的、主要累及肢带的良性肌病家系]

[2 families with benign myopathy predominantly on the limb girdle with dominant autosomal heredity].

作者信息

Serratrice G, Pellissier J F

机构信息

CHU Timone, Marseille.

出版信息

Rev Neurol (Paris). 1988;144(1):43-6.

PMID:3347807
Abstract

Very few authenticated cases of benign muscular dystrophy affecting mainly the girdles and of dominant autosomal inheritance have been documented. Two families were seen with this type of transmission, and certain common characteristics noted: proximal weakness and amyotrophy, frequency of muscle contractures, mainly distal, true calf hypertrophy, slow progression and benign nature and finally a fairly uniform semiology in the same family, an atypical finding in dominant autosomal hereditary disease.

摘要

主要累及带肌且为常染色体显性遗传的良性肌营养不良的确诊病例记载极少。发现了两个具有这种遗传类型的家系,并注意到某些共同特征:近端肌无力和肌萎缩、肌肉挛缩(主要为远端)的发生率、真性小腿肥大、进展缓慢且呈良性病程,最后在同一家系中有相当一致的症状学表现,这在常染色体显性遗传病中是不典型的发现。

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