Results 191 to 200 of about 3,216 (202)

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

European Journal of Human Genetics, 2004
Morten Dunø, Thomas Jespersen, John Vissing   +2 more
exaly  

G.P.10.14 Mutational analysis of CLCN1 in Korean patients with myotonia congenita

Neuromuscular Disorders, 2007
D. Kim, H. Kim, Y. Park, Y. Choi, I. Moon   +4 more
openaire   +1 more source

Myotonia caused by mutations in the muscle chloride channel geneCLCN1

Human Mutation, 2002
Michael Pusch
exaly  

A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony

Neuromuscular Disorders, 2012
Francesco Pascoli, Walter Grünberg
exaly  

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Neuromuscular Disorders, 2012
María J Mazón, Francisco Barros, Pilar de la Peña   +2 more
exaly  

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

NeuroMolecular Medicine, 2015
Simona Portaro, Concetta Altamura, Paola Imbrici   +2 more
exaly  

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

Human Molecular Genetics, 1994
C, Meyer-Kleine, K, Ricker, M, Otto, M C, Koch   +3 more
openaire   +2 more sources

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

Human Mutation, 1999
Raffaella Brugnoni, Renato Mantegazza
exaly  

Exon 17 skipping inCLCN1 leads to recessive myotonia congenita

Muscle and Nerve, 2004
Lie Chen, Zen H Lu, Joachim Weis
exaly  

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

Clinical Genetics, 2011
exaly