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Article

A PLP splicing abnormality is associated with an unusual presentation of PMD.

Annals of neurology - 1 Oct 2002

Hobson Grace M, Huang Zhong, Sperle Karen, Stabley Deborah L, Marks Harold G, Cambi Franca

Abstract excerpt

We report that a deletion of 19 base pairs (bp) in intron 3 of the proteolipid protein (PLP/DM20) gene causes a neurological disease characterized by mild developmental delay, followed by progressive decline of acquired motor and cognitive milestones. The clinical features are associated with mild delay in myelination demonstrated by magnetic resonance imaging studies and with ongoing demyelination and axonal...

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Source

Identifiers

PMID: 12325077
DOI: 10.1002/ana.10320

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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A PLP splicing abnormality is associated with an unusual presentation of PMD.PMID 12325077Read ↗

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A de novo splice donor site mutation causes in-frame deletion of 14 amino acids in the proteolipid protein in Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Current concepts of PLP and its role in the nervous system.Semantic proximity Read ↗

Separate proteolipid protein/DM20 enhancers serve different lineages and stages of development.Semantic proximity Read ↗

The pathobiology of myelin mutants reveal novel biological functions of the MBP and PLP genes.Semantic proximity Read ↗

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