Article
Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.
Human genetics - 1 Nov 1991
Koch M C, Ricker K, Otto M, Grimm T, Bender K, Zoll B, Harper P S, Lehmann-Horn F, Rüdel R, Hoffman E P
Abstract excerpt
Paramyotonia congenita (PC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is caused by a dysfunction of the sodium channel in muscle fibre. Parts of the gene coding for the alpha-subunit of the sodium c...
Topics
- Alleles
- Chromosomes, Human, Pair 17
- Female
- Genetic Linkage
- Humans
- Hyperkalemia
- Lod Score
- Male
- Mutation
- Myotonia Congenita
- Paralyses, Familial Periodic
- Pedigree
- Sodium Channels