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Article

Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.

Neuromuscular disorders : NMD - 1 Aug 2012

Safka Brožková Dana, Nevšímalová Soňa, Mazanec Radim, Rautenstrauss Bernd, Seeman Pavel

Abstract excerpt

Charcot-Marie-Tooth neuropathies (CMT) are a group of clinically and genetically heterogeneous disorders of the peripheral nervous system. Selection of candidate disease genes for mutation analysis is sometimes difficult since more than 40 genes and loci are known to be associated with CMT neuropathies. Hence a Czech family Cz-CMT with demyelinating type of autosomal dominant CMT disease was investigated by...

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Source

Identifiers

PMID: 22546699
DOI: 10.1016/j.nmd.2012.04.002

Genes

EGR2
MPZ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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