Associated Papers
Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).
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Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other VMA21-related disorders.
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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
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Fernández-Eulate G et al.
Journal of Neurology, 2024
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.
Pegat A et al.
Genes, 2022
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
32145091 (PubMed )
Supplement: HEP-72-1968-s001.pdf
Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.
Munteanu I et al.
Neurology, 2015
X-linked myopathy with excessive autophagy: a failure of self-eating.
Dowling JJ et al.
Acta Neuropathologica, 2015
Late adult-onset of X-linked myopathy with excessive autophagy.
Crockett CD et al.
Muscle & Nerve, 2014
Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.
Kurashige T et al.
Neuromuscular Disorders : Nmd, 2013
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Ramachandran N et al.
Acta Neuropathologica, 2013
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Ramachandran N et al.
Cell, 2009
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