A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan
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DOI：
10.1016/s0960-8966(03)00161-5
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发表时间：
2003-12-01
影响因子：
2.8
通讯作者：
Topaloglu, H
中科院分区：
文献类型：
--
作者：
Dinçer, P;Balci, B;Topaloglu, H
肢带型肌营养不良症是一组异质性的条件，其特征在于近端肌无力和疾病发作范围从婴儿期到成年期。我们在这里报告8例患者从7个不相关的家庭受到一种新的和相对温和的形式的常染色体隐性肢带型肌营养不良症（LGMD 2）的发病在第一个十年的生活和特点是严重的精神发育迟滞，但正常的脑成像。免疫细胞化学研究显示，在肌肉活检中α-肌营养不良蛋白聚糖表达的显着选择性减少。连锁分析排除了已知的基因位点的肢带型肌营养不良症和先天性肌营养不良症的近亲家庭。我们认为这是一种新的形式的肌营养不良症与相关的大脑参与。生化研究表明，它可能属于越来越多的肌营养不良症与异常表达的α-肌营养不良蛋白聚糖。(C)2003年由Elsevier B. V.出版
The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized by severe mental retardation but normal brain imaging. Immunocytochemical studies revealed a significant selective reduction of alpha-dystroglycan expression in the muscle biopsies. Linkage analysis excluded known loci for both limb girdle muscular dystrophy and congenital muscular dystrophies in the consanguineous families. We consider that this represents a novel form of muscular dystrophy with associated brain involvement. The biochemical studies suggest that it may belong to the growing number of muscular dystrophies with abnormal expression of alpha-dystroglycan. (C) 2003 Published by Elsevier B.V.