An autopsy case of classical Pelizaeus-Merzbacher's disease
โ Scribed by Yumiko Konishi; Shigehiko Kamoshita
- Publisher
- Springer-Verlag
- Year
- 1975
- Tongue
- English
- Weight
- 759 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0001-6322
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
The majority of motor parasomnias and almost all nocturnal seizures occur out of NREM sleep. 1,2 The only well-defined disorders that are exclusively REM related are REM sleep behavior disorder (RBD) 3 and painful nocturnal erections. Catathrenia is a disorder that arises mostly but not exclusively
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