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Article

SOX10 mutation with peripheral amyelination and developmental disturbance of axons.

Muscle & nerve - 1 Feb 2012

Parthey Kathleen, Kornhuber Malte, Kunze Christian, Wand Dorothea, Nolte Kay W, Nikolin Stefan, Weis Joachim, Schröder J Michael

Abstract excerpt

In this study we describe a case of a term infant with the neurological variant of Waardenburg syndrome type 4 (i.e., PCWH = peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease, as defined in OMIM #609136) due to a novel heterozygous base exchange (c.671C>G) in exon 4 of SOX10. Magnetic resonance imaging suggested central myelin deficiency...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22246888
DOI: 10.1002/mus.22262

Genes

SOX10

Variants

Provenance

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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