Associated Papers
Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families.
Xia X et al.
Journal of Human Genetics, 2026
Characterization of novel CASQ1 variants in two families with unusual phenotypic features.
Laarne M et al.
Journal of Neurology, 2025
[Identification of a novel variant in a patient with Calsequestrin 1 related myopathy].
Guo X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
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