Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation.
Arianna ManiniDaniele VelardoPatrizia CiscatoClaudia CinnanteMaurizio MoggioGiacomo ComiStefania CortiDario RonchiPublished in: Neurology. Genetics (2022)
analysis in suspected congenital polyneuropathies with odd features, including dysphonia, dysphagia, and respiratory insufficiency.