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Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.

Human mutation - 1 Apr 2022

Gangfuß Andrea, Hentschel Andreas, Rademacher Nina, Sickmann Albert, Stüve Burkhard, Horvath Rita, Gross Claudia, Kohlschmidt Nicolai, Förster Fabian, Abicht Angela, Schänzer Anne, Schara-Schmidt Ulrike, Roos Andreas, Della Marina Adela

Abstract excerpt

The synthesis of cytochrome c oxidase 2 (SCO2 ) gene encodes for a mitochondrial located metallochaperone essential for the synthesis of the cytochrome c oxidase (COX) subunit 2. Recessive mutations in SCO2 have been reported in several cases with fatal infantile cardioencephalomyopathy with COX deficiency and in only four cases with axonal neuropathy. Here, we identified a homozygous pathogenic variant (c.361G >...

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PMID: 35112411
DOI: 10.1002/humu.24338

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Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.PMID 35112411Read ↗

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