Associated Papers
Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other VMA21-related disorders.
Cocchiararo I et al.
Journal of Neuromuscular Diseases, 2025
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Cannata Serio M et al.
Hepatology (baltimore, Md.), 2020
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