Article
Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.
Neurology - 1 Jan 1997
Inoue K, Osaka H, Kawanishi C, Sugiyama N, Ishii M, Sugita K, Yamada Y, Kosaka K
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked dysmyelinating disorder of the CNS resulting from abnormalities in the proteolipid protein (PLP) gene. Exonic mutations in the PLP gene are present in 10 to 25% of all cases. In investigating genotype-phenotype correlations, we screened five Japanese families with PMD for PLP gene mutations and compared their clinical manifestations. We identified two novel...
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