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
A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient.
Chen L et al.
Journal of Neuromuscular Diseases, 2025
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.
Pegat A et al.
Genes, 2022
Genome-wide detection of human variants that disrupt intronic branchpoints.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
36306325 (PubMed )
Supplement: pnas.2211194119.sd04.xlsx › BPHunter_pathogenic_BP_variants
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Ramachandran N et al.
Acta Neuropathologica, 2013
X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children.
Rajeshwari M et al.
Neurology India, 0
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