Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

Cell ◽  
1992 ◽  
Vol 68 (4) ◽  
pp. 769-774 ◽  
Author(s):  
Andrea I. McClatchey ◽  
Peter Van den Bergh ◽  
Margaret A. Pericak-Vance ◽  
Wendy Raskind ◽  
Christine Verellen ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Temperature Sensitive ◽  
Cytoplasmic Loop ◽  
Paramyotonia Congenita ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Loop Region

The genomic structure of the human skeletal muscle sodium channel gene

1992 ◽  
Vol 1 (7) ◽  
pp. 521-527 ◽  
Author(s):  
Andrea I.McClatchey ◽  
Carol S.Lin ◽  
Jianzhou Wang ◽  
Eric P.Hoffman ◽  
Cecilia Rojas ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Human Skeletal Muscle ◽  
Genomic Structure ◽  
Channel Gene ◽  
Sodium Channel Gene

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

1991 ◽  
Vol 30 (6) ◽  
pp. 810-816 ◽  
Author(s):  
G. C. Ebers ◽  
A. L. George ◽  
R. L. Barchi ◽  
S. S. Ting-Passador ◽  
R. G. Kallen ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis ◽  
Paramyotonia Congenita ◽  
Channel Gene ◽  
Adult Muscle ◽  
Sodium Channel Gene

Identification of a Thr-to-Met Mutation in the Skeletal Muscle Sodium Channel Gene in Hyperkalemic Periodic Paralysis of a Japanese Family

1993 ◽  
Vol 707 (1 Molecular Bas) ◽  
pp. 342-345
Author(s):  
KIICHI ARAHATA ◽  
JIANZHOU WANG ◽  
W. GREGORY FEERO ◽  
HIROSHI HAYAKAWA ◽  
KOICHI HONDA ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Periodic Paralysis ◽  
Hyperkalemic Periodic Paralysis ◽  
Japanese Family ◽  
Channel Gene ◽  
Sodium Channel Gene
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