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Article

Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.

American journal of medical genetics. Part A - 15 Jul 2004

Henneke Marco, Wehner Lars-Erik, Hennies Hans Christian, Preuss Natalie, Gärtner Jutta

Abstract excerpt

"Pelizaeus-Merzbacher-like syndrome" is an undetermined leukodystrophy disorder of diffuse hypomyelination. The patients' clinical phenotype is indistinguishable from classical Pelizaeus-Merzbacher disease (PMD), but the patients lack PLP1 gene duplications or mutations. They represent about 20%...

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Source

Identifiers

PMID: 15214007
DOI: 10.1002/ajmg.a.30068

Genes

PLP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15214007-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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