Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)
โ Scribed by C. Paisan-Ruiz; P. Nath; N. W. Wood; A. Singleton; H. Houlden
- Book ID
- 111065599
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 421 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1351-5101
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๐ SIMILAR VOLUMES
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutati
## 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