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Article

Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.

Brain & development - 1 Oct 2010

Osaka Hitoshi, Koizume Shiro, Aoyama Haruhiko, Iwamoto Hiroko, Kimura Seiji, Nagai Jun-Ichi, Kurosawa Kenji, Yamashita Sumimasa

Abstract excerpt

We present the case of a 26 year-old man who developed normally until he began having difficulty walking at age 12. He subsequently became unable to stand at 15 years old and exhibited mental regression and generalized tonic convulsions by age 20. Magnetic resonance imaging revealed incomplete my...

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Source

Identifiers

PMID: 20022439
DOI: 10.1016/j.braindev.2009.11.004

Genes

PLP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20022439-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.PMID 20022439Read ↗

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