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Article

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

Muscle & nerve - 1 Jun 2013

Chaudhry Rabia, Kidambi Aditi, Brewer Megan Hwa, Antonellis Anthony, Mathews Katherine, Nicholson Garth, Kennerson Marina

Abstract excerpt

INTRODUCTION: Charcot-Marie-Tooth (CMT) disease is a group of peripheral neuropathies affecting both motor and sensory nerves. CMTX3 is an X-linked CMT locus, which maps to chromosome Xq26.3-q27.3. Initially, CMTX3 was mapped to a 31.2-Mb region in 2 American families. We have reexamined 1 of the original families (US-PED2) by next generation sequencing. METHODS: Three members of the family underwent exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GTP-Binding Protein gamma Subunits

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Identifiers

PMID: 23553728
DOI: 10.1002/mus.23743
PMCID: PMC5175269

Genes

BSCL2

Variants

Provenance

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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