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Article

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.

Journal of neurology - 1 Jun 2024

Ferreira Tomas, Polavarapu Kiran, Olimpio Catarina, Paramonov Ida, Lochmüller Hanns, Horvath Rita

Abstract excerpt

BACKGROUND: Peripheral neuropathies in mitochondrial disease are caused by mutations in nuclear genes encoding mitochondrial proteins, or in the mitochondrial genome. Whole exome or genome sequencing enable parallel testing of nuclear and mtDNA genes, and it has significantly advanced the genetic diagnosis of inherited diseases. Despite this, approximately 40% of all Charcot-Marie-Tooth (CMT) cases remain...

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Identifiers

PMID: 38549004
DOI: 10.1007/s00415-024-12319-y
PMCID: PMC11136726

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