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A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease

  • Published:2011-09 Issue:8 Volume:33 Page:697-699
  • ISSN:0387-7604
  • Container-title:Brain and Development
  • language:en
  • Short-container-title:Brain and Development

Author:

Fukumura Shinobu,Adachi Noriaki,Nagao Masayoshi,Tsutsumi Hiroyuki

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2;Inoue;Neurogenetics,2005

2. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR;Inoue;Am J Hum Genet,1996

3. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease;Doll;Am J Hum Genet,1992

4. Proteolipid protein (PLP) of CNS myelin: positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP;Weimbs;Biochemistry,1992

5. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease;Gow;Nat Genet,1996

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