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
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Fernández-Eulate G et al.
Journal of Neurology, 2024
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Bouman K et al.
Journal of Neuromuscular Diseases, 2023
36314217 (PubMed )
Supplement: jnd-10-jnd221543-s003.docx
Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.
Pegat A et al.
Genes, 2022
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.
Munteanu I et al.
Neuromuscular Disorders : Nmd, 2017
X-linked myopathy with excessive autophagy: a failure of self-eating.
Dowling JJ et al.
Acta Neuropathologica, 2015
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