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

Document Type

Journal

Author

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

Source

NEUROMUSCULAR DISORDERS; JUL 2023, 33 7, p557-p561, 5p.

Subject

Language

English

ISSN

18732364

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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