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Article

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

Human mutation - 1 Mar 2005

Hübner Christian A, Orth Ulrike, Senning Arne, Steglich Cordula, Kohlschütter Alfried, Korinthenberg Rudolf, Gal Andreas

Abstract excerpt

Pelizaeus-Merzbacher disease (PMD) is a rare X-chromosomal neurodegenerative disorder that affects primarily the white matter of the central nervous system and is caused by mutations of the PLP1 (proteolipid protein 1) gene. We performed mutation analysis of 133 male patients with suspected PMD. Following SSCP analysis of all coding exons of PLP1, we found most likely pathogenic mutations (single base...

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Source

Identifiers

PMID: 15712223
DOI: 10.1002/humu.9314

Genes

PLP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.PMID 15712223Read ↗

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