Gorka Fernández-Eulate, Girolamo Alfieri, Marco Spinazzi, Isabelle Ackermann-Bonan, Fanny Duval, Guilhem Solé, Florence Caillon, Sandra Mercier, Yann Pereon, Armelle Magot, Antoine Pegat, Emmanuelle Salort-Campana, Brigitte Chabrol, Svetlana Gorokhova, Martin Krahn, Valerie Biancalana, Teresinha Evangelista, Anthony Behin, Corinne Metay, Tanya Stojkovic
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 of XMEA patients followed in France and reviewed the literature for additional cases...
March 22, 2024: Journal of Neurology