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Article

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

Neuropediatrics - 1 Feb 2008

Auer-Grumbach M, Fischer C, Papić L, John E, Plecko B, Bittner R E, Bernert G, Pieber T R, Miltenberger G, Schwarz R, Windpassinger C, Grill F, Timmerman V, Speicher M R, Janecke A R

Abstract excerpt

Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX)...

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Source

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Identifiers

PMID: 18504680
DOI: 10.1055/s-2008-1077085
PMCID: PMC3272394

Genes

GDAP1
PRX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18504680-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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