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Article

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Brain : a journal of neurology - 1 Mar 2003

Senderek Jan, Bergmann Carsten, Ramaekers Vincent T, Nelis Eva, Bernert Günther, Makowski Astrid, Züchner Stephan, De Jonghe Peter, Rudnik-Schöneborn Sabine, Zerres Klaus, Schröder J Michael

Abstract excerpt

Mutations in the gene for the ganglioside-induced differentiation-associated protein-1 (GDAP1) on 8q21 recently were reported to cause autosomal recessive Charcot-Marie-Tooth (CMT) sensorimotor neuropathy. Neurophysiology and nerve pathology were heterogeneous in these cases: a subset of GDAP1 mutations was associated with peripheral nerve demyelination, whereas others resulted in axonal degeneration. In this...

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Identifiers

PMID: 12566285
DOI: 10.1093/brain/awg068

Genes

GDAP1

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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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Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.PMID 12566285Read ↗

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