title: A novelPLP1mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.
abstract: Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystagmus and laryngeal wheezing. The auditory brain stem response showed only the first wave and brain magnetic resonance imaging showed white matter hypomyelination, suggesting typical PMD. A novelPLP1mutation, F240L, which was inherited from his mother, was identified.
authors.affiliation: Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.
authors.forename: Yongping
authors.initials: Y
authors.lastname: Lu
authors.affiliation: Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Department of Pediatrics, Kouseiren Takaoka Hospital , Takaoka, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Sakuma
authors.affiliation: Department of Pediatrics, Kouseiren Takaoka Hospital , Takaoka, Japan.
authors.forename: Sachiko
authors.initials: S
authors.lastname: Nakaoka
authors.affiliation: Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.
authors.forename: Toshiyuki
authors.identifier: 0000-0002-9484-3505
authors.initials: T
authors.lastname: Yamamoto