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X-linked myopathy with excessive autophagy: characterization and therapy testing in a zebrafish model.
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X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children.
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Neurol India. 2022 Jul-Aug;70(4):1643-1648. doi: 10.4103/0028-3886.355110.
Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.
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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.
Cocchiararo I, Castets P.
J Neuromuscul Dis. 2025 Mar 4:22143602251314767. doi: 10.1177/22143602251314767. Online ahead of print.
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
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Diagnosing X-Linked Myopathy With Excessive Autophagy After 30 years: Genetic, Ultrasonographic, and Electrodiagnostic Findings.
Dwairi V, Giacobbe A, Zivkovic S, Lacomis D.
J Clin Neuromuscul Dis. 2024 Sep 1;26(1):12-15. doi: 10.1097/CND.0000000000000500.
Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
Cocchiararo I, Cattaneo O, Rajendran J, Chabry F, Cornut M, Soldati H, Bigot A, Mamchaoui K, Gibertini S, Bouche A, Ham DJ, Laumonier T, Prola A, Castets P.
Hum Mol Genet. 2023 Dec 1;32(24):3374-3389. doi: 10.1093/hmg/ddad164.
X-linked myopathy with excessive autophagy due to a mutation in VMA21 gene: the first case in China.
Yang J, Chen D, Feng L, Yan Z, Wu C, You H, Liao B, Wu J, Li X.
Neurol Sci. 2022 Mar;43(3):2137-2139. doi: 10.1007/s10072-021-05788-w. Epub 2022 Jan 11.
