A C --> G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-Merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonucleas
โฆ LIBER โฆ
Disturbances of rapid-eye-movement sleep in 3 brothers with Pelizaeus-Merzbacher disease
โ Scribed by Enayatolah Niakan; Joseph Belluomini; Helio Lemmi; Robert L. Summitt; Dr. Lawrence Ch'ien
- Publisher
- John Wiley and Sons
- Year
- 1979
- Tongue
- English
- Weight
- 471 KB
- Volume
- 6
- Category
- Article
- ISSN
- 0364-5134
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We report a GโA transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. The clinical pictu