We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not funct
Jimpymsd mouse mutation and connatal Pelizaeus-Merzbacher disease
โ Scribed by Yamamoto, Toshiyuki; Nanba, Eiji; Zhang, Haidi; Sasaki, Masayuki; Komaki, Hirohumi; Takeshita, Kenzo
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 4 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980203)75:4<439::aid-ajmg19>3.0.co;2-p
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## Pelizaeus -Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2) comprises a spectrum of diseases that range from severe to quite mild. The reasons for the variation in severity are not obvious, but suggested explanations include the extent of disruption of the transmembrane portion of the
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