%0 Review
%T Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
%A Massucco S
%A Gemelli C
%A Bellone E
%A Geroldi A
%A Patrone S
%A Mandich P
%A Scarsi E
%A Faedo E
%A Marinelli L
%A Mongini T
%A Traverso M
%A Baratto S
%A Schenone A
%A Fiorillo C
%A Grandis M
%J Acta Myol
%V 42
%N 4
%D 2023
%M 38406380
暂无%R 10.36185/2532-1900-323
%X 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 and weakness of distal lower limbs musculature. Since creatine phosphokinase (CPK) values were persistently raised (1.5fold increased) and a Next-Generation Sequencing CMT-associated panel failed in identifying pathogenic variants, a muscle biopsy was performed with evidence of alterations suggestive of a protein surplus distal myopathy. Finally, Whole-Exome Sequencing (WES) identified two pathogenic SORD variants in the heterozygous state: c.458C > A (p.Ala153Asp) and c.757delG (p.Ala253Glnfs*27). This is an isolated report of compound heterozygosity for two SORD mutations associated with clinical and histological signs of skeletal muscle involvement, expanding the phenotypic expression of SORD mutations.