CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia

2018 ◽  
Vol 58 (1) ◽  
pp. 157-160 ◽  
Author(s):  
Héctor Gaitán-peñas ◽  
Mercedes Armand-Ugón ◽  
Alfons Macaya ◽  
Raúl Estévez
Keyword(s):  
Myotonia Congenita ◽  
Variable Pattern

Deciding the Adequacy of a Set of Tests for an Specific Assessment Situation. Decision-making Strategies

1996 ◽  
Vol 12 (1) ◽  
pp. 14-22
Author(s):  
R. Esteve ◽  
A. Godoy
Keyword(s):  
Decision Making ◽  
Time Pressure ◽  
Response Mode ◽  
Information Load ◽  
Variable Pattern ◽  
Mode Effects ◽  
Moderator Effects ◽  
Specific Assessment ◽  
Information Board ◽  
Decision Importance

The aim of the present paper was to test the effects of response mode (choice vs. judgment) on decision-making strategies when subjects were faced with the task of deciding the adequacy of a set of tests for a specific assessment situation. Compared with choice, judgment was predicted to lead to more information sought, more time spent on the task, a less variable pattern of search, and a greater amount of interdimensional search. Three variables hypothesized as potential moderators of the response mode effects are also studied: time pressure, information load and decision importance. Using an information board, 300 subjects made decisions (choices and judgments) on tests for a concrete assessment situation, under high or low time pressure, high or low information load, and high or low decision importance. Response mode produced strong effects on all measures of decision behavior except for pattern of search. Moderator effects occurred for time pressure and information load.

�ber eine erfolgreiche Behandlung der Myotonia congenita (Thomsen) mit Kationenaustauschern

1953 ◽  
Vol 31 (35-36) ◽  
pp. 868-869 ◽  
Author(s):  
Rolf Gr�ttner ◽  
Hans Georg Mertens
Keyword(s):  
Myotonia Congenita

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita

2021 ◽  
Author(s):  
Lucas Santos Souza ◽  
Priscila Calyjur ◽  
Antonio Fernando Ribeiro ◽  
Juliana Gurgel-Giannetti ◽  
Rita Cassia Mingroni Pavanello ◽  
...  
Keyword(s):  
Consanguineous Family ◽  
Myotonia Congenita ◽  
Clcn1 Gene

A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A

Neurology ◽  
2002 ◽  
Vol 59 (7) ◽  
pp. 1091-1094 ◽  
Author(s):  
T. Shirakawa ◽  
K. Sakai ◽  
Y. Kitagawa ◽  
A. Hori ◽  
G. Hirose
Keyword(s):  
Myotonia Congenita ◽  
Molecular Defects

Mineralocorticoid- und Acth-Wirkung auf die Myotonia congenita (Thomsen)

1955 ◽  
Vol 33 (25-26) ◽  
pp. 623-624 ◽  
Author(s):  
Hans-Hasso Nissen
Keyword(s):  
Myotonia Congenita

scholarly journals ClC-1 Chloride Channel Mutations in Myotonia Congenita: Variable Penetrance of Mutations Shifting the Voltage Dependence

1998 ◽  
Vol 7 (11) ◽  
pp. 1753-1760 ◽  
Author(s):  
C. Kubisch ◽  
T. Schmidt-Rose ◽  
B. Fontaine ◽  
A. H. Bretag ◽  
T. J. Jentsch
Keyword(s):  
Chloride Channel ◽  
Voltage Dependence ◽  
Myotonia Congenita ◽  
Variable Penetrance

Muscular Paralysis in Myotonia congenita

1972 ◽  
Vol 7 (4) ◽  
pp. 221-227 ◽  
Author(s):  
K. Ricker ◽  
H.-M. Meinck
Keyword(s):  
Myotonia Congenita
Sign in / Sign up

Export Citation Format

Share Document