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Article

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Neurogenetics - 1 Jan 2017

Schon Katherine, Spasic-Boskovic Olivera, Brugger Kim, Graves Tracey D, Abbs Stephen, Park Soo-Mi, Ambegaonkar Gautam, Armstrong Ruth

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet...

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Source

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Identifiers

PMID: 28063088
DOI: 10.1007/s10048-016-0504-2
PMCID: PMC5243894

Genes

MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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