Article

Biallelic variants in<i>COX18</i>cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

2024-07-04

Abstract excerpt

Defects in mitochondrial dynamics are a common cause of Charcot-Marie-Tooth disease (CMT), while primary deficiencies in the mitochondrial respiratory chain (MRC) are rare and atypical for this etiology. This study aims to report COX18 as a novel CMT-causing gene. This gene encodes an assembly factor of mitochondrial Complex IV (CIV) that translocates the C-terminal tail of MTCO2 across the mitochondrial inner mem...

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Literature Corpus work: c3f363f8-a9ea-5262-9ff8-c360d76fc0e2
DOI: 10.1101/2024.07.03.24309787

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