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Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.

Pediatrics and neonatology - 1 Apr 2014

Chen Yen-Chun, Liang Wen-Chen, Su Yi-Ning, Jong Yuh-Jyh

Abstract excerpt

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder affecting myelination of the central nervous system, and is caused by mutations of the proteolipid protein 1 (PLP1) gene. Clinical manifestations of PMD are variable and major features include progressive nystagmus, spasticity, tremor, ataxia, and psychomotor delay. We describe a classical PMD patient who had been misdiagnosed as cerebral palsy....

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Identifiers

PMID: 23597542
DOI: 10.1016/j.pedneo.2012.12.006

Genes

PLP1

Variants

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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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