Article
Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families.
American journal of medical genetics - 3 Mar 1997
Sillén A, Sørensen T, Kantola I, Friis M L, Gustavson K H, Wadelius C
Abstract excerpt
Familial hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder characterised by episodic attacks of paralysis of varying severity. Recently, linkage was found to markers in 1q31-32 and to the gene encoding the muscle DHP-sensitive calcium channel alpha 1-subunit (CACNL1A3). Su...
Topics
- Adolescent
- Adult
- Aged
- Calcium Channels
- Child
- Child, Preschool
- DNA, Satellite
- Denmark
- Family
- Female
- Humans
- Hypokalemia
- Male
- Microsatellite Repeats
- Middle Aged
- Mutation
- Paralyses, Familial Periodic
- Pedigree