Article
Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.
Neurology - 1 Jun 1998
Sistermans E A, de Coo R F, De Wijs I J, Van Oost B A
Abstract excerpt
BACKGROUND/OBJECTIVE: Pelizaeus-Merzbacher disease (PMD), an X-linked recessive dysmyelination disorder, is caused by mutations in the proteolipid protein (PLP) gene. However, missense mutations were only found in a fraction of PMD patients, even in families that showed linkage with the PLP locus...
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