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X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

✍ Scribed by Saugier-Veber, Pascale; Munnich, Arnold; Bonneau, Dominique; Rozet, Jean-Michel; Le Merrer, Martine; Gil, Roger; Boespflug-Tanguy, Odile

Book ID
109915387
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
565 KB
Volume
6
Category
Article
ISSN
1061-4036

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Family with Pelizaeus-Merzbacher disease
Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene
✍ Bond, Cherie; Si, Xiaoli; Crisp, Margaret; Wong, Paul; Paulson, George W.; Boese 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

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

Different mutations in the same codon of
Different mutations in the same codon of the proteolipid protein gene,PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)
✍ Hodes, M.E.; Zimmerman, Andrew W.; Aydanian, Antonina; Naidu, Sakkubai; Miller, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

## 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