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HYPERKALEMIC PERIODIC PARALYSIS AND THE ADULT MUSCLE SODIUM-CHANNEL ALPHA-SUBUNIT GENE
被引：281
作者：
FONTAINE, B
KHURANA, TS
HOFFMAN, EP
BRUNS, GAP
HAINES, JL
TROFATTER, JA
HANSON, MP
RICH, J
MCFARLANE, H
YASEK, DM
ROMANO, D
GUSELLA, JF
BROWN, RH
机构：
[1] MASSACHUSETTS GEN HOSP,DAY NEUROMUSCULAR RES LAB,BOSTON,MA 02129
[2] HARVARD UNIV,SCH MED,PROGRAM NEUROSCI,BOSTON,MA 02115
[3] CHILDRENS HOSP MED CTR,DIV MED GENET,BOSTON,MA 02115
[4] CHILDRENS HOSP MED CTR,DEPT PEDIAT,BOSTON,MA 02115
来源：
关键词：
D O I：
10.1126/science.2173143
中图分类号：
O [数理科学和化学];
P [天文学、地球科学];
Q [生物科学];
N [自然科学总论];
学科分类号：
07 ;
0710 ;
09 ;
摘要：
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 α-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 α-subunit gene contains the HYPP mutation.
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页码：1000 / 1002
页数：3
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