PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations

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

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations

✦ Synopsis