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[胫骨肌营养不良症。一种罕见的远端肌病形式]

[Tibial muscular dystrophy. A rare form of distal myopathy].

作者信息

de Seze J, Udd B, Vermersch P

机构信息

Clinique Neurologique, Hôpital R. Salengro, CHRU de Lille, France.

出版信息

Rev Neurol (Paris). 1999 Apr;155(4):296-305.

Abstract

Tibial muscular dystrophy (TMD) is a dominantly inherited late onset distal leg myopathy only described in the Finnish population as yet. A similar disorder was described by Markesbery et al. in 1974 in one American family. Assignment of the TMD locus to chromosome 2q31 has been demonstrated (Haravuori et al., 1998). We recently described a French family with clinical and laboratory findings similar to TMD (de Seze et al., 1998). Molecular genetic results indicate that the distal myopathy in this family could be linked to the TMD locus confirming TMD exists outside the Finish population. This overview of TMD will allow to describe differential diagnoses such as other distal myopathies and scapuloperoneal syndromes.

摘要

胫骨肌营养不良症(TMD)是一种显性遗传的迟发性远端腿部肌病,迄今为止仅在芬兰人群中被描述过。1974年,马克斯贝里等人在美国的一个家族中描述了一种类似的病症。TMD基因座已被证实定位于2号染色体q31区域(哈拉武奥里等人,1998年)。我们最近描述了一个法国家族,其临床和实验室检查结果与TMD相似(德塞泽等人,1998年)。分子遗传学结果表明,这个家族的远端肌病可能与TMD基因座相关,这证实了TMD在芬兰人群之外也存在。对TMD的这一概述将有助于描述鉴别诊断,如其他远端肌病和肩胛腓骨综合征。

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