Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.
Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell membrane associated with elevated serum potassium. Electrophysiological studies have implicated the adult muscle sodium channel. Here, portions of the adult muscle sodium channel alpha-subunit gene were cloned and mapped near the human growth hormone locus (GH1) on chromosome 17. In a large pedigree displaying HYPP with myotonia, these two loci showed tight linkage to the genetic defect with no recombinants detected. Thus, it is likely that the sodium channel alpha-subunit gene contains the HYPP mutation.
Fontaine
B
B
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown, MA 02129.
Khurana
T S
TS
Hoffman
E P
EP
Bruns
G A
GA
Haines
J L
JL
Trofatter
J A
JA
Hanson
M P
MP
Rich
J
J
McFarlane
H
H
Yasek
D M
DM
D000328:Adult; D000818:Animals; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005796:Genes / Q000235:genetics; D013006:Growth Hormone / Q000235:genetics; D006801:Humans; D006947:Hyperkalemia / Q000235:genetics*; D009132:Muscles / Q000502:physiology*; D010245:Paralyses, Familial Periodic / Q000235:genetics*; D010375:Pedigree; D051381:Rats; D015222:Sodium Channels / Q000235:genetics*
D015222:Sodium Channels; D013006:Growth Hormone