MRC Centre for Neuromuscular Diseases, UCL, Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Muscle Nerve. 2011 Oct;44(4):590-3. doi: 10.1002/mus.22196.
Mutations in the LAMA2 gene result in a complete loss of merosin and underlie a severe congenital type of muscular dystrophy (MDC1A).We investigated the clinical, genetic, and histological basis of late-onset muscular dystrophy in one family. The proband and her affected brother exhibited late-onset predominantly proximal muscle weakness. In addition, the proband experienced seizures. Magnetic resonance imaging of her brain demonstrated white-matter abnormalities. Sequencing of LAMA2 identified two new heterozygous point mutations in the two affected members. Muscle histology demonstrated dystrophic features, rimmed vacuoles, and partial loss of laminin α immunoreactivity. Partial merosin deficiency can present with a mild, late-onset limb-girdle-type pattern of weakness, with or without epilepsy, and pathologically may exhibit features observed in inclusion-body myopathy.
LAMA2 基因突变导致先天性严重肌肉营养不良症（MDC1A）完全缺失 merosin。我们研究了一个家族中迟发性肌肉营养不良症的临床、遗传和组织学基础。先证者及其受累的哥哥表现为迟发性、主要为近端肌无力。此外，先证者还伴有癫痫发作。其脑部磁共振成像显示存在白质异常。LAMA2 测序在两名受累成员中发现了两个新的杂合点突变。肌肉组织学显示出营养不良的特征、镶边空泡和部分层粘连蛋白 α 免疫反应缺失。部分 merosin 缺乏症可表现为轻度、迟发性肢带型肌无力，伴或不伴癫痫，其病理学可能表现出包涵体肌病的特征。
