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
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy.
Bardhan M et al.
Global Medical Genetics, 2024
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.
Pegat A et al.
Genes, 2022
X-linked myopathy with excessive autophagy: First report of an Israeli family presenting with late onset lower limb girdle weakness.
Alon T et al.
Neuromuscular Disorders : Nmd, 2021
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
Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.
Cotta A et al.
Journal of the Neurological Sciences, 2020
Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.
Munteanu I et al.
Neurology, 2015
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy.
Ruggieri A et al.
Neuromuscular Disorders : Nmd, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Ramachandran N et al.
Cell, 2009
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