Connatal Pelizaeus-Merzbacher disease: A missense mutation in exon 4 of theproteolipid protein(PLP) gene
โ Scribed by M. Nagao; Jun-ichi Kadowaki
- Publisher
- Nature Publishing Group
- Year
- 1998
- Tongue
- English
- Weight
- 132 KB
- Volume
- 43
- Category
- Article
- ISSN
- 1435-232X
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of
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
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
W e studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41+T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and show n