Article

Novel insight into the potential pathogenicity of mitochondrial dysfunction resulting from PLP1 duplication mutations in patients with Pelizaeus–Merzbacher disease

2021-02-09

Abstract excerpt

<title>Abstract</title> <p>Among the hypomyelinating leukodystrophies, Pelizaeus–Merzbacher disease (PMD) is a representative disorder. The disease is caused by different types of <italic>PLP1</italic> mutations, among which <italic>PLP1</italic> duplication accounts for ~ 70% of the mutations. Previous studies have shown that <italic>PLP1</italic> duplications lead to PLP1 retention in the endoplasmic reticulum...

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Literature Corpus work: 74413ee8-7703-5ade-8caf-f7611ae2dad3
DOI: 10.21203/rs.3.rs-216270/v1

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