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Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.

Advances in experimental medicine and biology - 1 Jan 2019

Inoue Ken

Abstract excerpt

Pelizaeus-Merzbacher disease (PMD) represents a group of disorders known as hypomyelinating leukodystrophies, which are characterized by abnormal development and maintenance of myelin in the central nervous system. PMD is caused by different types of mutations in the proteolipid protein 1 (PLP1) gene, which encodes a major myelin membrane lipoprotein. These mutations in the PLP1 gene result in distinct cellular...

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PMID: 31760646
DOI: 10.1007/978-981-32-9636-7_13

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Source receipt: pubmed, retrieved 7 Sept 2026.

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