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Article

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.

Expert reviews in molecular medicine - 19 May 2008

Woodward Karen J

Abstract excerpt

Pelizaeus-Merzbacher disease (PMD) is a recessive X-linked dysmyelinating disorder of the central nervous system (CNS). The most frequent cause of PMD is a genomic duplication of chromosome Xq22 including the region encoding the dosage-sensitive proteolipid protein 1 (PLP1) gene. The PLP1 duplica...

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Source

Identifiers

PMID: 18485258
DOI: 10.1017/S1462399408000677

Genes

PLP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18485258-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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