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 on Xq22. Here we describe the use of an extended protocol that includes screening for both missense mutations and...
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