CLINICAL AND MOLECULAR CHARACTERIZATION OF LIMB-GIRDLE MUSCULAR DYSTROPHY DUE TO LAMA2 MUTATIONS
CLINICAL AND MOLECULAR CHARACTERIZATION OF LIMB-GIRDLE MUSCULAR DYSTROPHY DUE TO LAMA2 MUTATIONS
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DOI：
10.1002/mus.22132
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发表时间：
2011-11-01
期刊：
影响因子：
3.4
通讯作者：
Pegoraro, Elena
中科院分区：
文献类型：
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作者：
Gavassini, Bruno F.;Carboni, Nicola;Pegoraro, Elena
引言：在这项研究中，我们描述了由于LAMA 2突变引起的肢带型肌营养不良症（LGMD）的临床和分子特征。方法：5例临床诊断为LGMD并在MRI上显示脑白色物质高信号的患者使用层粘连蛋白α 2遗传和蛋白质检测进行评估。结果：患者表现为缓慢进展的轻度肌营养不良，伴有不同程度的中枢神经系统受累。在2例患者中观察到癫痫，在3例患者中观察到CNS受累的轻微症状（执行功能轻度缺陷和低智商评分）。在所有患者中发现了新的LAMA 2突变。与对照组相比，肌肉活检组织中层粘连蛋白α 2蛋白的量从痕量到约50%不等。结论：这项研究代表了LGMD层粘连蛋白α 2缺陷患者的最大系列，并扩展了与LAMA 2突变相关的临床表型。研究结果表明，脑MRI可以包括在未确诊的LGMD患者的诊断工作。肌肉神经44：703-709，2011
INTRODUCTION: In this study we describe the clinical and molecular characteristics of limb-girdle muscular dystrophy (LGMD) due to LAMA2 mutations. METHODS: Five patients clinically diagnosed with LGMD and showing brain white matter hyperintensities on MRI were evaluated using laminin alpha 2 genetic and protein testing. RESULTS: The patients had slowly progressive, mild muscular dystrophy with various degrees of CNS involvement. Epilepsy was observed in 2, and subtle symptoms of CNS involvement (mild deficit in executive functions and low IQ scores) were noted in 3 patients. Novel LAMA2 mutations were identified in all patients. The amount of laminin alpha 2 protein in the muscle biopsies ranged from trace to about 50% compared with controls. CONCLUSIONS: This study represents the largest series of LGMD laminin alpha 2-deficient patients and expands the clinical phenotype associated with LAMA2 mutations. The findings suggest that brain MRI could be included in the diagnostic work-up of patients with undiagnosed LGMD. Muscle Nerve 44: 703-709, 2011