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Article

Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.

Molecular and cellular probes - 1 Jan 2000

Gerding Wanda Maria, Koetting Judith, Rey Lucía Paola, Bibas Bonet Hilda, Abdala Mirta Esther, Mazzeo Anna, Mostacciuolo Maria Luisa, Arning Larissa, Carrero-Valenzuela Roque

Abstract excerpt

X-linked Charcot-Marie-Tooth disease (CMT Type X1, OMIM: 302800) represents a frequent cause of hereditary peripheral motor and sensory neuropathies and is associated with mutations in GJB1 encoding the gap junction beta 1 protein connexin 32 (Cx32). Studying an Argentinean family of Italian origin with seven affected males in three generations exhibiting clinical signs of CMT, eight obligate female carriers were...

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PMID: 23384994
DOI: 10.1016/j.mcp.2013.01.002

Genes

GJB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.PMID 23384994Read ↗

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