SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

doi:10.1111/ene.15793

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Article

SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

European journal of neurology - 1 Jul 2023

Pons Nicolas, Fernández-Eulate Gorka, Pegat Antoine, Théaudin Marie, Guieu Régis, Ripellino Paolo, Devedjian Manon, Mace Patrick, Masingue Marion, Léonard-Louis Sarah, Petiot Philipe, Roche Pauline, Bernard Emilien, Bouhour Françoise, Good Jean-Marc, Verschueren Annie, Grapperon Aude-Marie, Salort Emmanuelle, Grosset Anaïs, Chanson Jean-Baptiste, Nadaj-Pakleza Aleksandra, Bédat-Millet Anne-Laure, Choumert Ariane, Barnier Anne, Hamdi Ghassen, Lesca Gaëtan, Prieur Fabienne, Bruneel Arnaud, Latour Philippe, Stojkovic Tanya, Attarian Shahram, Bonello-Palot Nathalie

Abstract excerpt

BACKGROUND AND PURPOSE: Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) resulting in lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD-related peripheral neuropathies were described in a French...

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PMID: 36943151
DOI: 10.1111/ene.15793

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SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.PMID 36943151Read ↗

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