Results 151 to 160 of about 10,028,553 (168)

[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
Feng Jing, Haijiang Li, Dan-Yang Yang, Tao Chen, Yuexian Liu, Li-Dan Yu   +5 more
semanticscholar   +1 more source

The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias

Russian Journal of Genetics, 2012
E. Ivanova, E. Dadali, V. Fedotov, S. Kurbatov, G. Rudenskaya, T. Proskokova, A. Polyakov   +6 more
semanticscholar   +2 more sources

Periodic Paralysis in the Phenotypic Spectrum of CLCN1 Gene Mutation (P1.6-048)

Neurology, 2019
Himadri Patel, H. Tiwana, Gayatra Mainali, M. Wicklund, Ashutosh Kumar   +4 more
semanticscholar   +1 more source

Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita

, 2016
Jin-Sung Park, Sun-Jae Hwang, Jin-Hong Shin   +2 more
semanticscholar   +1 more source

A “dystrophic” variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

Neurology, 2000
S. Nagamitsu, T. Matsuura, M. Khajavi, R. Armstrong, C. Gooch, Y. Harati, T. Ashizawa   +6 more
semanticscholar   +1 more source

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

Journal of Neurology, 1999
C. de Diego, J. Gámez, E. Plassart-Schiess, A. Lasa, E. del Río, C. Cervera, M. Baiget, P. Gallano, B. Fontaine   +8 more
semanticscholar   +1 more source

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker).

Human Molecular Genetics, 1994
Christof Meyer-Kleine, Kenneth Ricker, M. Otto, Manuela C. Koch   +3 more
semanticscholar   +1 more source

[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2012
Zhi-ting Chen, Jin He, Wan-Jin Chen, Sheng-Gen Chen, Ji-Lan Lin, Qin-Qin Ye, Hua-Pin Huang   +6 more
semanticscholar   +1 more source

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

Human Mutation, 1999
Renato Mantegazza, Raffaella Brugnoni
exaly  

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

European Journal of Human Genetics, 2002
T Torbergsen, M van Ghelue, Lisbeth Tranebjærg   +2 more
exaly