Associated Papers
Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).
Merlet AN et al.
Journal of Neuropathology and Experimental Neurology, 2025
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
VMA21-X-linked myopathy in Peru: characterization of three families.
Martínez-Esteban P et al.
Neuromuscular Disorders : Nmd, 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
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
Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.
Mercier S et al.
Muscle & Nerve, 2015
Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.
Munteanu I et al.
Neurology, 2015
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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