Results 141 to 149 of about 2,557 (149)

Novel CLCN1 mutations in Taiwanese patients with myotonia congenita

Journal of Neurology, 2004
Shuo-Bin Jou, Huichin Pan
exaly  

Identification of two novel compound heterozygous CLCN1 mutations associated with autosomal recessive myotonia congenita

Neurological Research, 2019
Zhang Jing
exaly  

Myotonia caused by mutations in the muscle chloride channel gene CLCN1

Human Mutation, 2002
Michael Pusch
exaly  

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  

A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris

Neuromuscular Disorders, 2012
Jerzy T. Marcinkowski, Daniel Zielonka, Paweł Stachowiak   +2 more
exaly  

Truncating CLCN1 mutations in myotonia congenita: Variable patterns of inheritance

Muscle and Nerve, 2014
Sidney M Gospe
exaly  

Novel CLCN1 mutations with unique clinical and electrophysiological consequences.

Brain, 2002
Christoph Fahlke, Reinhardt Rudel, Laura Palmucci   +2 more
exaly  

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

Muscle and Nerve, 2012
Mariz Vainzof, Juliana Gurgel-Giannetti, Mayana Zatz   +2 more
exaly  

Identification of novel mutations of the CLCN1 gene for myotonia congenital in China

Neurological Research, 2016
exaly