In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease
โ Scribed by Kleindorfer, Dawn Olson ;Dlouhy, Stephen R. ;Pratt, Victoria M. ;Jones, Marylin C. ;Trofatter, James A. ;Hodes, M. E.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 264 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0148-7299
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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
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