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Article

CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.

Human molecular genetics - 12 Dec 2023

Shammas Mario K, Nie Yu, Gilsrud Alexandra, Huang Xiaoping, Narendra Derek P, Chinnery Patrick F

Abstract excerpt

Mutations affecting the mitochondrial intermembrane space protein CHCHD10 cause human disease, but it is not known why different amino acid substitutions cause markedly different clinical phenotypes, including amyotrophic lateral sclerosis-frontotemporal dementia, spinal muscular atrophy Jokela-type, isolated autosomal dominant mitochondrial myopathy and cardiomyopathy. CHCHD10 mutations have been associated with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37815936
DOI: 10.1093/hmg/ddad161
PMCID: PMC10729859

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