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Article

A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.

Journal of the neurological sciences - 15 Feb 2006

Kabzińska Dagmara, Kochański Andrzej, Drac Hanna, Rowińska-Marcińska Katarzyna, Ryniewicz Barbara, Pedrola Laia, Palau Francesc, Hausmanowa-Petrusewicz Irena

Abstract excerpt

Mutations in the gene coding for ganglioside-induced differentiation-associated protein-1 (GDAP1), which maps to chromosome 8q21, have been described in families with autosomal recessive Charcot-Marie-Tooth disease (CMT4A). Interestingly, some mutations in the GDAP1 gene have been reported in the demyelinating form of CMT1 disease, whereas others were found in patients with the axonal type of CMT disease. So far,...

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Source

Identifiers

PMID: 16343542
DOI: 10.1016/j.jns.2005.10.002

Genes

GDAP1

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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