Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)

1993 ◽  
Vol 3 (4) ◽  
pp. 305-310 ◽  
Author(s):  
Alfred L. George ◽  
Michael A. Crackower ◽  
Judith A. Abdalla ◽  
Arthur J. Hudson ◽  
George C. Ebers
Keyword(s):  
Molecular Basis ◽  
Autosomal Dominant ◽  
Myotonia Congenita ◽  
Thomsen's Disease ◽  
Thomsen’S Disease

41. Novel mutation in the CLCN1 gene causing myotonia congenita (Thomsen’s disease)

2009 ◽  
Vol 16 (11) ◽  
pp. 1539
Author(s):  
Kishore Kumar ◽  
Karl Ng ◽  
Himesha Vandebona ◽  
Nigel Laing ◽  
Carolyn Sue
Keyword(s):  
Novel Mutation ◽  
Myotonia Congenita ◽  
Clcn1 Gene ◽  
Thomsen's Disease ◽  
Thomsen’S Disease

scholarly journals The case of "myotonia congenita"

1909 ◽  
Vol XVI (1) ◽  
pp. 118-131
Author(s):  
N. A. Donskov
Keyword(s):  
Myotonia Congenita ◽  
Typical Form ◽  
Thomsen's Disease ◽  
Thomsen’S Disease ◽  
Comprehensive Study

A comprehensive study of Thomsen's disease has been accomplished quite a bit, and for the mood, in the words of R. I. Rossolimo, it seems that the time has come when the study of typical cases gave everything that could be demanded from it, having established a more or less exact picture of the disease , and when there was a need for help on the part of deviations from the typical form. " However, the question of the essence and genesis of this suffering can hardly be considered explained satisfactorily enough to neglect the description of the not so often encountered individual cases of myotonia, even if even these cases differed little from typical ones.

Successful Dantrolene Sodium Treatment of a Patient with Myotonia Congenita (Thomsen's Disease)

1991 ◽  
Vol 33 (5) ◽  
pp. 668-671 ◽  
Author(s):  
Etsuo Ohtaki ◽  
Hironori Komori ◽  
Yoichiro Yamaguchi ◽  
Toyojiro Matsuishi
Keyword(s):  
Myotonia Congenita ◽  
Dantrolene Sodium ◽  
Thomsen's Disease ◽  
Thomsen’S Disease
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