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Article

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

Neurology - 26 Oct 2004

Verny C, Ravisé N, Leutenegger A-L, Pouplard F, Dubourg O, Tardieu S, Dubas F, Brice A, Genin E, LeGuern E

Abstract excerpt

The authors report a family in which two affected first cousins had a severe demyelinating Charcot-Marie-Tooth disease (CMT) phenotype. One had related parents, and there were no other affected relatives, suggesting an autosomal recessive mode of inheritance. Molecular studies showed that a de novo duplication in 17p11.2 and a second mutation in MTMR2 were present.

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Source

Identifiers

PMID: 15505184
DOI: 10.1212/01.wnl.0000142082.65144.ee

Genes

MTMR2

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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