SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages - 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; et al. (European journal of neurology, 2023)
Keywords: Atrophy; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - genetics; Charcot–Marie–Tooth; Dosage; Genetic analysis; Genetics; Genotype; Genotypes; Humans; Life Sciences; Limbs; Mass spectrometry; Mass spectroscopy; Muscular Atrophy; Mutation; neuropathy; Next-generation sequencing; Peripheral neuropathy; Phenotypes; Sorbitol; SORD; Switzerland; Switzerland; SORD; muscular atrophy; neuropathy; Charcot-Marie-Tooth; peripheral neuropathy