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Article

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.

BMC medical genetics - 21 Jan 2014

Østern Rune, Fagerheim Toril, Hjellnes Helene, Nygård Bjørn, Mellgren Svein Ivar, Nilssen Øivind

Abstract excerpt

BACKGROUND: The identification of disease causing, or putative disease causing, mutations in index patients with Charcot-Marie-Tooth disease (CMT) allows for genetic testing of family members. Relevant variants identified in index patients are of either definite, likely or uncertain pathogenicity...

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Source

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Identifiers

PMID: 24444136
DOI: 10.1186/1471-2350-15-12
PMCID: PMC3900263

Genes

MFN2
MPZ
GJB1
NEFL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24444136-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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