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Article

Phenotype variability and natural history of X-linked myopathy with excessive autophagy.

Journal of neurology - 1 Jul 2024

Fernández-Eulate Gorka, Alfieri Girolamo, Spinazzi Marco, Ackermann-Bonan Isabelle, Duval Fanny, Solé Guilhem, Caillon Florence, Mercier Sandra, Pereon Yann, Magot Armelle, Pegat Antoine, Salort-Campana Emmanuelle, Chabrol Brigitte, Gorokhova Svetlana, Krahn Martin, Biancalana Valerie, Evangelista Teresinha, Behin Anthony, Metay Corinne, Stojkovic Tanya

Abstract excerpt

OBJECTIVE: X-linked myopathy with excessive autophagy (XMEA) linked to the VMA21 gene leads to autophagy failure with progressive vacuolation and atrophy of skeletal muscles. Current knowledge of this rare disease is limited. Our objective was to define the clinical, radiological, and natural history of XMEA. METHODS: We conducted a retrospective study collecting clinical, genetic, muscle imaging, and biopsy data...

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Identifiers

PMID: 38517523
DOI: 10.1007/s00415-024-12298-0

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