thomsen’s disease
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scholarly journals Two cases of so-called congenital myotonia (Thomsen's disease)

2021 ◽  
Vol 43 (1) ◽  
pp. 71-72
Author(s):  
P. V. Polisadov
Keyword(s):  
Accurate Description ◽  
Thomsen's Disease ◽  
Thomsen’S Disease

We owe the first and accurate description of this muscular suffering to the Schleswig physician Thomsen, who in 1876 observed this disease in himself and in many members of his family.

Short stature revealing Thomsen's disease: a case report

2019 ◽  
Author(s):  
Maryame Imaouen ◽  
Sara Derrou ◽  
Youssra Benabdelfedil ◽  
Guendouz Faycal El ◽  
Hassan Ouleghzal ◽  
...  
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Thomsen's Disease ◽  
Thomsen’S Disease

Management of pregnancy with Thomsen's disease

2013 ◽  
Vol 170 (1) ◽  
pp. 293-294 ◽  
Author(s):  
S. Gorthi ◽  
S. Radbourne ◽  
N. Drury ◽  
C. Rajagopalan
Keyword(s):  
Thomsen's Disease ◽  
Thomsen’S Disease

scholarly journals Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen’s disease

2013 ◽  
Vol 53 (4) ◽  
pp. 316-319 ◽  
Author(s):  
Ryogen Sasaki ◽  
Masanori P. Takahashi ◽  
Yosuke Kokunai ◽  
Masaaki Hirayama ◽  
Toru Ibi ◽  
...  
Keyword(s):  
Chloride Channel ◽  
Compound Heterozygous ◽  
Japanese Family ◽  
Channel Gene ◽  
Compound Heterozygous Mutations ◽  
Thomsen's Disease ◽  
Thomsen’S Disease

P5.11. Using fluorescence resonance energy transfer (FRET) to reveal the basis for Thomsen’s disease

2011 ◽  
Vol 21 (9-10) ◽  
pp. 726-727
Author(s):  
A.H. Bretag ◽  
L. Ma ◽  
G.Y. Rychkov ◽  
E.A. Bykova ◽  
J. Zheng
Keyword(s):  
Energy Transfer ◽  
Fluorescence Resonance Energy Transfer ◽  
Resonance Energy Transfer ◽  
Resonance Energy ◽  
Fluorescence Resonance ◽  
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

Osteoporosis in a patient with Thomsen's disease

Bone ◽  
2009 ◽  
Vol 44 ◽  
pp. S424
Author(s):  
A. Bagur⁎ ◽  
M. Levy ◽  
B. Oliveri
Keyword(s):  
Thomsen's Disease ◽  
Thomsen’S Disease

Fluctuating clinical myotonia and weakness from Thomsen’s disease occurring only during pregnancies

1999 ◽  
Vol 101 (2) ◽  
pp. 133-136 ◽  
Author(s):  
David Lacomis ◽  
Jorge T Gonzales ◽  
Michael J Giuliani
Keyword(s):  
Thomsen's Disease ◽  
Thomsen’S Disease

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
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