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A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria

✍ Scribed by S. Naidu; S.R. Dlouhy; M.T. Geraghty; M.E. Hodes


Book ID
110222804
Publisher
Springer
Year
1997
Tongue
English
Weight
57 KB
Volume
20
Category
Article
ISSN
0141-8955

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Family with Pelizaeus-Merzbacher disease
✍ Bond, Cherie; Si, Xiaoli; Crisp, Margaret; Wong, Paul; Paulson, George W.; Boese πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 28 KB πŸ‘ 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
✍ Hodes, M.E.; Zimmerman, Andrew W.; Aydanian, Antonina; Naidu, Sakkubai; Miller, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 37 KB πŸ‘ 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