Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families

Journal of Human Genetics 2026

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Authors: Xingyu Xia, Milla M. Laarne, Tonglin Pan, Kexin Jiao, Nachuan Cheng, Bochen Zhu, Meining Diao, Mingshi Gao, Yuyu Liu, Chongbo Zhao, Zhe Zhao, Wenhua Zhu
DOI: 10.1038/s10038-026-01461-2
Cited by: 0
References: 15

Fields of Study & Subjects

Muscle Physiology and Disorders Genomics and Rare Diseases Ion channel regulation and function

Publication details

Journal / source
Journal of Human Genetics
Volume
71
Issue
7
Pages
419–425
Publication date
16 February 2026
Language
EN