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
Novel Nonsense Proteolipid Protein Gene Mutation as a Cause of X-Linked Spastic Paraplegia in Twin Males
โ Scribed by H. Osaka; C. Kawanishi; K. Inoue; H. Uesugi; K. Hiroshi; K. Nishiyama; Y. Yamada; K. Suzuki; S. Kimura; K. Kosaka
- Book ID
- 115577459
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 359 KB
- Volume
- 215
- Category
- Article
- ISSN
- 0006-291X
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A transition C506T was found in exon 4 of the proteolipid protein gene of a boy with spastic paraplegia. This mutation resulted in the substitution of phenylalanine for serine 169, which is in the third transmembrane domain of the proteolipid protein molecule. The mutation apparently arose de novo,
## 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