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Article

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Acta neurologica Scandinavica - 1 May 2016

Pasanen P, Myllykangas L, Pöyhönen M, Kiuru-Enari S, Tienari P J, Laaksovirta H, Toppila J, Ylikallio E, Tyynismaa H, Auranen M

Abstract excerpt

OBJECTIVES: Mutations in the CHCHD10 gene, which encodes a mitochondrially targeted protein, have emerged as an important cause of motor neuron disease and frontotemporal lobar degeneration. The aim of this study was to assess the clinical variability in a large family carrying the p.Gly66Val mut...

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Identifiers

PMID: 26224640
DOI: 10.1111/ane.12470

Genes

CHCHD10

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26224640-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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