Article
A calcium channel mutation causing hypokalemic periodic paralysis.
Human molecular genetics - 1 Aug 1994
Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg R G, Hogan K, Powers P A, Lapie P, Vale-Santos J E, Weissenbach J
Abstract excerpt
The only calcium channel mutation reported to date is a deletion in the gene for the DHP-receptor alpha 1-subunit resulting in neonatal death in muscular dysgenesis mice (1). In humans, this gene maps to chromosome 1q31-32. An autosomal dominant muscle disease, hypokalemic periodic paralysis (HypoPP), has been mapped to the same region (2). Sequencing of cDNA of two patients revealed a G-to-A base exchange of...
Topics
- Amino Acid Sequence
- Base Sequence
- Calcium Channels
- Chromosome Deletion
- Genetic Linkage
- Humans
- Hypokalemia
- Molecular Sequence Data
- Mutation
- Paralysis
- Pedigree