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病例报告:一个单一的新型calpain 3基因变异与轻度肌肉病变相关

Sara Massucco1, Paola Fossa2, Chiara Fiorillo3

  • 1Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.

Frontiers in genetics
|December 20, 2024
PubMed
概括

自体主导性calpainopathy是一种罕见的肢体腰带肌肉发育不良的形式,可能是由calpain 3基因的异构突变引起的. 这项研究确定了一种新型变种,可能导致轻度症状.

关键词:
这是LGMD LGMD.在LGMDR1中.头部疼痛 (calpain) 是一种疼痛.骨头疼痛症 (calpainopathy) 是一种疼痛症.案例报告案例报告

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