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
CASQ1-related myopathy: The first report from China and the literature review.
Zhang KY et al.
Clinical Case Reports, 2022
Select a paper to view details