Gene: [00.0/HOKPP2] hypokalemic periodic paralysis 2;


COM

Plassart-1994 demonstrated genetic heterogeneity of hypokalemic periodic paralysis. They found that the disorder in a large family of French origin was not genetically linked to Chr 1q31-q32 (hypokalemic periodic paralysis 1 due to mutation in a voltage-dependent calcium channel, see GEM:01q32/CACNA1S)."

REF

HET,PAT "Plassart E &: Hum Genet, 94, 551-556, 1994

KEY

myo

CLA

unknown, basic

LOC

RS

MIM

MIM: 600304

Смотрите также:

  • HOKPP Ген кальциевых каналов T трубочек