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
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Fernández-Eulate G et al.
Journal of Neurology, 2024
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
Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.
Blanco-Arias P et al.
Neuromuscular Disorders : Nmd, 2023
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