Severe congenital x-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant

X-linked myopathy with excessive autophagy (XMEA OMIM: 310440) is a rare inherited disease segregating as an X-linked trait. Histopathologically, it is characterized by aberrant accumulation of autophagic vacuoles and atrophy of the skeletal muscle. It is caused by pathogenic variants in the VMA21 gene, which reduce expression of VMA21, an essential assembly chaperone of the vacuolar proton pump complex ATPase (V-ATPase) required to acidify the lysosome [1]. Reduction in VMA21 protein leads to an elevated lysosomal pH and impairment of the autophagy process.

Source: Neuromuscular Disorders - May 22, 2023 Category: Neurology Authors: Patricia Blanco-Arias, Inmaculada Medina Mart ínez, Luisa Arrabal Fernández, Eloy Rivas Infante, Maria Jose Salmerón Fernández, Catalina González Hervás, Pilar Azcón González de Aguilar, Lluis Armengol, Susana Pedrinaci, Francesca Perin Tags: Case report Source Type: research