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CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

Human genetics - 1 May 2020

Al-Abdi Lama, Al Murshedi Fathiya, Elmanzalawy Alaa, Al Habsi Asila, Helaby Rana, Ganesh Anuradha, Ibrahim Niema, Patel Nisha, Alkuraya Fowzan S

Abstract excerpt

Myelin pathologies are an important cause of multifactorial, e.g., multiple sclerosis, and Mendelian, e.g., leukodystrophy, neurological disorders. CNP encodes a major component of myelin and its CNS expression is exclusive to myelin-forming oligodendrocytes. Deficiency of CNP in mouse causes a lethal white matter neurodegenerative phenotype. However, a corresponding human phenotype has not been described to...

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PMID: 32128616
DOI: 10.1007/s00439-020-02144-4

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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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