Article
Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.
Biochemical and biophysical research communications - 24 Oct 1995
Osaka H, Kawanishi C, Inoue K, Uesugi H, Hiroshi K, Nishiyama K, Yamada Y, Suzuki K, Kimura S, Kosaka K
Abstract excerpt
We report a third mutation of the proteolipid protein gene in male Japanese patients with X-linked spastic paraplegia. Although the proteolipid protein gene encodes two myelin proteins, proteolipid protein and DM 20, our W144X mutation resides in the latter part of exon 3 (exon 3B), which is spliced out in DM 20. This mutation may reserve the function of DM 20. Findings in our patients support that this form of...
Topics
- Adult
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- DNA Primers
- Diffuse Cerebral Sclerosis of Schilder
- Diseases in Twins
- Exons
- Female
- Humans
- Male