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家族性包涵体肌炎:常染色体显性遗传的证据。

Familial inclusion body myositis: evidence for autosomal dominant inheritance.

作者信息

Neville H E, Baumbach L L, Ringel S P, Russo L S, Sujansky E, Garcia C A

机构信息

Department of Neurology, University of Colorado School of Medicine, Denver.

出版信息

Neurology. 1992 Apr;42(4):897-902. doi: 10.1212/wnl.42.4.897.

Abstract

We report a kindred manifesting clinical features and muscle biopsy findings of inclusion body myositis (IBM). In this family, multiple members were affected in two generations with direct male-to-male and female-to-male transmission. This is the first reported instance of autosomal dominant inheritance in IBM, which usually occurs sporadically or, rarely, may be transmitted as an autosomal recessive disorder.

摘要

我们报告了一个具有包涵体肌炎(IBM)临床特征和肌肉活检结果的家族。在这个家族中,两代人中多个成员患病,存在男性到男性以及女性到男性的直接遗传。这是首次报道的IBM常染色体显性遗传病例,IBM通常为散发性,或极少情况下可能以常染色体隐性疾病形式遗传。

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