Results 131 to 140 of about 2,557 (149)

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia [PDF]

European Journal of Human Genetics, 2008
Contains fulltext : 69798.pdf (Publisher’s version ) (Closed access)Non-dystrophic myotonias (NDMs) are caused by mutations in CLCN1 or SCN4A.
Baziel van Engelen, Gea Drost, Jan B M Kuks   +2 more
exaly   +2 more sources

Exon 17 skipping in CLCN1 leads to recessive myotonia congenita

Muscle and Nerve, 2004
Mutations in CLCN1, the gene encoding the ClC-1 chloride channel in skeletal muscle, lead to myotonia congenita. The effects on the intramembranous channel forming domains have been investigated more than that at the intracellular C-terminus.
Lie Chen, Zen H Lu, Joachim Weis
exaly   +2 more sources

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

European Journal of Human Genetics, 2004
Udgivelsesdato: 2004-SepMutations in the CLCN1 gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC).
Morten Grunnet, John Vissing, Thomas Jespersen   +2 more
exaly   +2 more sources

Myotonia congenita in a Labrador Retriever with truncated CLCN1 [PDF]

Neuromuscular Disorders, 2018
An eight week old Labrador Retriever puppy presented with stiff-legged robotic gait. Abnormal gait was most evident after rest and improved with prolonged activity.
Kaspar Matiasek, Andrea Fischer, Marco Rosati   +2 more
exaly   +2 more sources

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia

Neurogenetics, 2017
Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous ...
Concetta Altamura, Sabrina Ravaglia, Jean-François Desaphy   +2 more
exaly   +3 more sources

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

NeuroMolecular Medicine, 2015
Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1
Concetta Altamura, Jean-François Desaphy, Paola Imbrici   +2 more
exaly   +2 more sources

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High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

Journal of Neurology, 2008
Benedikt Schoser, Hanns Lochmüller, O Raheem   +2 more
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  

Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression

Biochemical and Biophysical Research Communications, 2006
Min-Jon Lin, Huichin Pan
exaly  

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

Neuromuscular Disorders, 2012
Adela Escudero, Francisco Barros, Pilar de la Peña   +2 more
exaly