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Article

Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jan 2023

Massucco Sara, Gemelli Chiara, Bellone Emilia, Geroldi Alessandro, Patrone Serena, Mandich Paola, Scarsi Elena, Faedo Elena, Marinelli Lucio, Mongini Tiziana, Traverso Monica, Baratto Serena, Schenone Angelo, Fiorillo Chiara, Grandis Marina

Abstract excerpt

Biallelic mutations in the sorbitol dehydrogenase (SORD) gene have been identified as a genetic cause of autosomal recessive axonal Charcot-Marie-Tooth disease 2 (CMT2) and distal hereditary motor neuropathy (dHMN). We herein review the main phenotypes associated with SORD mutations and report the case of a 16-year-old man who was referred to our outpatient clinic for a slowly worsening gait disorder with wasting...

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Identifiers

PMID: 38406380
DOI: 10.36185/2532-1900-323
PMCID: PMC10883325

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Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.PMID 38406380Read ↗

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