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识别LAMA2复合异构体变体:一个案例报告

Yingchao Ying1, Jia Ye1, Jue Shen2

  • 1Department of Child Psychology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Translational pediatrics
|July 10, 2024
PubMed
概括

拉米宁-α2链缺陷肌肉发育不良 (LAMA2-MD) 是一种常见的先天性疾病. 这项研究在一个患者中发现了新型化合物异合体LAMA2变体,突出了整体外基因组测序对诊断未定义的CMD的有用性.

关键词:
拉米宁-α2 (LAMA2) 是一种案例报告案例报告肢体-腰带肌肉发育不良症 肌肉发育不良症梅洛辛缺乏的先天性肌肉缩 (梅洛辛缺乏的CMD)整体外基因组测序 (WES) 测序

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