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Article

Mutation analysis of CHCHD2 and CHCHD10 in Italian patients with mitochondrial myopathy.

Neurobiology of aging - 1 Jun 2018

Rubino Elisa, Zhang Ming, Mongini Tiziana, Boschi Silvia, Vercelli Liliana, Vacca Alessandro, Govone Flora, Gai Annalisa, Giordana Maria Teresa, Grinberg Mark, Rogaeva Ekaterina, Rainero Innocenzo

Abstract excerpt

Mutations in CHCHD2 and CHCHD10 were recently reported in a broad spectrum of neurodegenerative diseases, for example, Parkinson's disease, amyotrophic lateral sclerosis, frontotemporal dementia, or mitochondrial myopathy (MM). The aim of the study was to evaluate the prevalence of CHCHD2 and CHCHD10 mutations in Italian MM patients without mitochondrial DNA mutations. The coding regions of CHCHD2 and CHCHD10...

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Source

Identifiers

PMID: 29519717
DOI: 10.1016/j.neurobiolaging.2018.02.007

Genes

CHCHD10
CHCHD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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