X-linked myopathy with excessive autophagy: a failure of self-eating.
Dowling JJ, Moore SA, Kalimo H, Minassian BA.
Acta Neuropathol. 2015 Mar;129(3):383-90. doi: 10.1007/s00401-015-1393-4. Epub 2015 Feb 3.
X-linked myopathy with excessive autophagy: characterization and therapy testing in a zebrafish model.
Huang L, Simonian R, Lopez MA, Karuppasamy M, Sanders VM, English KG, Fabian L, Alexander MS, Dowling JJ.
EMBO Mol Med. 2025 Apr;17(4):823-840. doi: 10.1038/s44321-025-00204-8. Epub 2025 Feb 24.
X-Linked Myopathy with Excessive Autophagy; A Case Report.
Rao S, Chandra SR, Narayanappa G.
Neurol India. 2019 Sep-Oct;67(5):1344-1346. doi: 10.4103/0028-3886.271280.
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.
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 Jul;12(4):443-462. doi: 10.1177/22143602251314767. Epub 2025 Mar 4.
X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children.
Rajeshwari M, Dhiman N, Chakrabarty B, Gulati S, Shamim U, Faruq M, Suri V, Sharma MC.
Neurol India. 2022 Jul-Aug;70(4):1643-1648. doi: 10.4103/0028-3886.355110.
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Fernández-Eulate G, Alfieri G, Spinazzi M, Ackermann-Bonan I, Duval F, Solé G, Caillon F, Mercier S, Pereon Y, Magot A, Pegat A, Salort-Campana E, Chabrol B, Gorokhova S, Krahn M, Biancalana V, Evangelista T, Behin A, Metay C, Stojkovic T.
J Neurol. 2024 Jul;271(7):4008-4018. doi: 10.1007/s00415-024-12298-0. Epub 2024 Mar 22.
Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.
Blanco-Arias P, Medina Martínez I, Arrabal Fernández L, Rivas Infante E, Salmerón Fernández MJ, González Hervás C, Azcón González de Aguilar P, Armengol L, Pedrinaci S, Perin F.
Neuromuscul Disord. 2023 Jul;33(7):557-561. doi: 10.1016/j.nmd.2023.05.008. Epub 2023 May 23.
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.
Late adult-onset of X-linked myopathy with excessive autophagy.
Crockett CD, Ruggieri A, Gujrati M, Zallek CM, Ramachandran N, Minassian BA, Moore SA.
Muscle Nerve. 2014 Jul;50(1):138-44. doi: 10.1002/mus.24197. Epub 2014 May 17.
