一种导致儿童期起病、缓慢进展性肢带型肌营养不良的新型γ-肌聚糖突变。

A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.

作者信息

van der Kooi A J, de Visser M, van Meegen M, Ginjaar H B, van Essen A J, Jennekens F G, Jongen P J, Leschot N J, Bolhuis P A

机构信息

Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.

出版信息

Neuromuscul Disord. 1998 Jun;8(5):305-8. doi: 10.1016/s0960-8966(98)00040-6.

DOI:10.1016/s0960-8966(98)00040-6

PMID:9673983

Abstract

Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtype, LGMD2C, has been linked to chromosome 13, and is caused by gamma-sarcoglycan deficiency in muscle. This report describes a novel missense mutation identified in a large consanguineous Dutch family with LGMD. This mutation leads to reduction of gamma-sarcoglycan, and gives rise to a childhood-onset, slowly-progressive dystrophy.

摘要

肢带型肌营养不良症是一组异质性疾病。一种常染色体隐性亚型，LGMD2C，与13号染色体相关，由肌肉中γ-肌聚糖缺乏引起。本报告描述了在一个患有LGMD的荷兰近亲大家族中发现的一种新的错义突变。这种突变导致γ-肌聚糖减少，并引发儿童期起病、进展缓慢的肌营养不良症。