Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation

OBJECTIVES: The c.254C>G (p.S85C) MATR3 variant causes vocal cord and pharyngeal weakness with distal myopathy (VCPDM), which is characterized by progressive, asymmetric, predominantly distal muscle weakness, dysphonia, dysphagia, and respiratory impairment. Herein, we describe an Italian patient...

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Detalles Bibliográficos
Autores principales: Manini, Arianna, Velardo, Daniele, Ciscato, Patrizia, Cinnante, Claudia, Moggio, Maurizio, Comi, Giacomo, Corti, Stefania, Ronchi, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9258980/
https://www.ncbi.nlm.nih.gov/pubmed/35812165
http://dx.doi.org/10.1212/NXG.0000000000200006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9258980/
https://www.ncbi.nlm.nih.gov/pubmed/35812165
http://dx.doi.org/10.1212/NXG.0000000000200006

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