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Article

X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.

Neurology - 20 Jan 2009

Kennerson M, Nicholson G, Kowalski B, Krajewski K, El-Khechen D, Feely S, Chu S, Shy M, Garbern J

Abstract excerpt

OBJECTIVE: To clinically characterize and map the gene locus in a three-generation family with an X-linked adult-onset distal hereditary motor neuropathy. METHODS: Microsatellite markers spanning the juvenile distal spinal muscular atrophy (DSMAX) locus were genotyped and analyzed using genetic linkage analysis. The promoter, untranslated and coding region of the gap junction beta1 (GJB1) gene was sequenced. Nine...

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Share to Chromosomes, Human, X
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Share to Gap Junction beta-1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Microsatellite Repeats

Share to Muscular Atrophy, Spinal

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Source

Identifiers

PMID: 19153371
DOI: 10.1212/01.wnl.0000339483.86094.a5

Genes

GJB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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