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Article

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.

Neuromuscular disorders : NMD - 1 Aug 2013

Gess Burkhard, Schirmacher Anja, Boentert Matthias, Young Peter

Abstract excerpt

Charcot-Marie-Tooth (CMT) neuropathies belong to the most common neurogenetic disorders. To date, mutations in more than 40 genes are known to be able to cause CMT. This genetic heterogeneity is a challenge for genetic diagnostics. Data on frequencies of mutations in CMT genes from large patient cohorts are needed to develop strategies for efficient genetic testing. In this study we have analysed patient...

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Identifiers

PMID: 23743332
DOI: 10.1016/j.nmd.2013.05.005

Genes

GJB1
MPZ
MFN2
PMP22

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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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