:

Shiji Chalipat1, Shruti Talewad1, Aryan Gupta1

  • 1Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.

Cureus
|August 5, 2024
PubMed
概括

遗传性肌肉疾病 - - 尼马林肌病 - - 在一个八岁的男孩身上被诊断出使用临床外体序列测序. 这揭示了雾基因的新突变,促进了对先天性肌肉病变的理解.