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Severe Congenital X-linked Myopathy with Excessive Autophagy Secondary to an Apparently Synonymous but Pathogenic Novel Variant.

Patricia Blanco-Arias,Inmaculada Medina Martinez,Luisa Arrabal Fernandez,Eloy Rivas Infante, Maria Jose Salmeron Fernandez, Catalina Gonzalez Hervas, Pilar Azcon Gonzalez de Aguilar,Lluis Armengol,Susana Pedrinaci,Francesca Perin

NEUROMUSCULAR DISORDERS（2023）

引用 2|浏览23
关键词
XMEA,Autophagy,Inherited disease,Synonymous variant,Heart failure
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