The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

doi:10.1038/ng1002

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Article

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

Nature genetics - 1 Nov 2002

Howard Heidi C, Mount David B, Rochefort Daniel, Byun Nellie, Dupré Nicolas, Lu Jianming, Fan Xuemo, Song Luyan, Rivière Jean-Baptiste, Prévost Claude, Horst Jürgen, Simonati Alessandro, Lemcke Beate, Welch Rick, England Roger, Zhan Frank Q, Mercado Adriana, Siesser William B, George Alfred L, McDonald Michael P, Bouchard Jean-Pierre, Mathieu Jean, Delpire Eric, Rouleau Guy A

Abstract excerpt

Peripheral neuropathy associated with agenesis of the corpus callosum (ACCPN) is a severe sensorimotor neuropathy associated with mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. ACCPN is transmitted in an autosomal recessive fashion and is found at a high frequency in the province of Quebec, Canada. ACCPN has been previously mapped to chromosome 15q. The gene...

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PMID: 12368912
DOI: 10.1038/ng1002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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