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由新型化合物异构基因突变引起的MYH2相关肌病:病例报告和文献综述

Yulai Kang¹, Tong Yang², Xue Chen³

¹Department of Internal Medicine, No. 93285 Hospital of PLA, Jilin, China.

Journal of human genetics

|August 31, 2025

概括

一个患有肢体衰弱和亡的患者被诊断出MYH2相关的肌肉病,这是一个罕见的先天性疾病. 基因测试揭示了MYH2基因的新型化合物异构基因突变,扩大了其已知的遗传变异.

科学领域:

遗传学
神经学
分子生物学

背景情况:

MYH2相关的肌肉病包括各种先天性疾病.
在MYH2中涉及复合异构基因突变的病例很少被记录.

研究的目的:

报告一个罕见的MYH2相关肌病病例.
描述MYH2基因中的新型化合物异构基因突变.
为了扩大已知的肌肉病的遗传谱.

主要方法:

临床表现分析包括眼睛和四肢症状.
轨道的磁共振成像
肌肉活检用于组织病理学检查.
对MYH2基因突变进行综合基因检测.

主要成果:

一个63岁的女性出现了肺缩和肢体衰弱.
肌肉活检显示具有均1型纤维的先天性神经肌肉疾病.
基因检测发现了复合异构基因突变:c.4066G>T (p.E1356X) 和c.5473-1G>A (拼接).
这些新突变被认为是潜在的致病变体.

结论:

基因检测对于诊断罕见的肌肉病至关重要.
这种病例扩大了MYH2相关肌肉病的遗传范围.
鉴定出的突变有助于了解疾病机制.

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