scholarly journals N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita

2017 ◽  
Vol 595 (22) ◽  
pp. 6837-6850 ◽  
Author(s):  
Qing Ke ◽  
Jia Ye ◽  
Siyang Tang ◽  
Jin Wang ◽  
Benyan Luo ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Human Skeletal Muscle ◽  
Paramyotonia Congenita

Primary structure of the adult human skeletal muscle voltage-dependent sodium channel

1992 ◽  
Vol 31 (2) ◽  
pp. 131-137 ◽  
Author(s):  
Alfred L. George ◽  
Jeffrey Komisarof ◽  
Roland G. Kallen ◽  
Robert L. Barchi
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Primary Structure ◽  
Human Skeletal Muscle ◽  
Adult Human ◽  
Voltage Dependent

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

Functional expression and properties of the human skeletal muscle sodium channel

1994 ◽  
Vol 427 (1-2) ◽  
pp. 136-142 ◽  
Author(s):  
Mohamed Chahine ◽  
Paul B. Bennett ◽  
Alfred L. George ◽  
Richard Horn
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Human Skeletal Muscle ◽  
Functional Expression

A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita

1995 ◽  
Vol 133 (1-2) ◽  
pp. 192-193 ◽  
Author(s):  
Takeshi Yamada ◽  
Hirofumi Ochi ◽  
Hideo Hara ◽  
Takeo Yoshimura ◽  
Takuro Kobayashi
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Japanese Family ◽  
Paramyotonia Congenita ◽  
Channel Mutation ◽  
Sodium Channel Mutation

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

Neuron ◽  
1992 ◽  
Vol 8 (5) ◽  
pp. 891-897 ◽  
Author(s):  
Louis J. Ptáček ◽  
Alfred L. George ◽  
Robert L. Barchi ◽  
Robert C. Griggs ◽  
Jack E. Riggs ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Paramyotonia Congenita ◽  
Adult Skeletal Muscle ◽  
S4 Segment

Genotype-Phenotype Correlations in Human Skeletal Muscle Sodium Channel Diseases

1993 ◽  
Vol 50 (11) ◽  
pp. 1241-1248 ◽  
Author(s):  
R. Rudel ◽  
K. Ricker ◽  
F. Lehmann-Horn
Keyword(s):  
Skeletal Muscle ◽  
Sodium Channel ◽  
Human Skeletal Muscle

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

Paramyotonia congenita: The R1448P Na+ channel mutation in adult human skeletal muscle

1996 ◽  
Vol 39 (5) ◽  
pp. 599-608 ◽  
Author(s):  
H. Lerche ◽  
N. Mitrovic ◽  
V. Dubowitz ◽  
F. Lehmann-Horn
Keyword(s):  
Skeletal Muscle ◽  
Human Skeletal Muscle ◽  
Na Channel ◽  
Paramyotonia Congenita ◽  
Adult Human ◽  
Channel Mutation
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