Inherited myopathies in the Middle East and North Africa

K Rochdi, A Barakat, R Saile - Gene Reports, 2022 - Elsevier
Myopathies are genetically inherited muscle degenerative disorders that mainly cause
muscle weakness and a more or less marked muscle wasting (atrophy), although rare but …

Merosin 缺乏性先天性肌营养不良 1A 型 1 例报告

索桂海, 汤继宏, 冯隽 - 临床儿科杂志, 2020 - jcp.xinhuamed.com.cn
目的探讨LAMA2 基因突变致先天性肌营养不良的临床特点及诊断方法. 方法回顾分析1
例merosin 缺乏性先天性肌营养不良1A 型(MDC 1 A) 患儿的临床资料. 结果患儿男性, 2 岁2 …