Identification of a Thr-to-Met mutation in the skeletal muscle sodium channel gene in hyperkalemic periodic paralysis of a Japanese family.
Arahata
K
K
National Institute of Neuroscience, NCNP, Tokyo, Japan.
Wang
J
J
Feero
W G
WG
Hayakawa
H
H
Honda
K
K
Sugita
H
H
Hoffman
E P
EP
D000328:Adult; D005260:Female; D006801:Humans; D006947:Hyperkalemia / Q000235:genetics; D007564:Japan; D008297:Male; D008715:Methionine; D018482:Muscle, Skeletal / Q000378:metabolism*; D010245:Paralyses, Familial Periodic / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D015222:Sodium Channels / Q000235:genetics*; D013912:Threonine
D015222:Sodium Channels; D013912:Threonine; D008715:Methionine