POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
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DOI：
10.1016/j.bbrc.2007.09.066
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发表时间：
2007-11-30
影响因子：
3.1
通讯作者：
Bruno, Claudio
中科院分区：
文献类型：
--
作者：
Biancheri, Roberta;Falace, Antonio;Bruno, Claudio
α-肌营养不良聚糖的糖基化缺陷与多种形式的肌营养不良有关。先天性肌营养不良症和脑部受累患者中已发现 POMT2 基因突变，其特征要么是 Walker-Warburg/肌肉-眼-脑表型，要么是小头畸形、智力低下和小脑发育不全。我们在一名患有轻度肢带型肌营养不良症 (LGMD) 表型的女孩中发现了 POMT2 纯合错义突变，血清肌酸激酶水平显着升高，以及大脑不参与的情况。肌肉活检显示肌病和炎症变化以及α-肌营养不良蛋白严重减少。鉴于显着的轻度临床表现，我们建议将这种表型命名为 LGMD2N。 (C) 2007 Elsevier Inc. 保留所有权利。
Defects in glycosylation of alpha-dystroglycan are associated with several forms of muscular dystrophies. Mutations in POMT2 gene have been identified in patients with congenital muscular dystrophy and brain involvement, either characterized by a Walker-Warburg/muscle-eye-brain phenotype, or by microcephaly, mental retardation, and cerebellar hypoplasia.We identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement. Muscle biopsy revealed myopathic and inflammatory changes and severe alpha-dystroglyean reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N. (C) 2007 Elsevier Inc. All rights reserved.