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A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.

Acta biochimica Polonica - 1 Jan 2014

Kabzińska Dagmara, Kotruchow Katarzyna, Cegielska Joanna, Hausmanowa-Petrusewicz Irena, Kochański Andrzej

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease caused by mutations in the GDAP1 gene has been shown to be inherited via traits that may be either autosomal recessive (in the majority of cases) [CMT4A] or autosomal dominant [CMT2K]. CMT4A disease is characterized by an early onset, and a severe clinical course often leading to a loss of ambulation, whereas CMT2K is characterized by a mild clinical course of benign axonal...

Topics

Adolescent
Adult
Aged
Charcot-Marie-Tooth Disease
Child
Child, Preschool
Female
Humans
Male
Mutation
Nerve Tissue Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Young Adult

Source

Identifiers

PMID: 25337607

Genes

GDAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.PMID 25337607Read ↗

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