Associated Papers
Autosomal Recessive Becker's Form of Myotonia Congenita in Indian Families.
Krovvidi S et al.
Cureus, 2025
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.
Karthikeyan P et al.
Molecular Genetics & Genomic Medicine, 2024
Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.
Elaraby NM et al.
Molecular Biology Reports, 2024
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.
Musa NH et al.
Frontiers in Genetics, 2022
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.
Zhao C et al.
Plos One, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F et al.
Frontiers in Neurology, 2019
Myotonia congenita: novel mutations in CLCN1 gene.
Liu XL et al.
Channels (austin, Tex.), 2015
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová D et al.
Plos One, 2013
[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
Ivanova EA et al.
Genetika, 2012
Novel insights into the pathomechanisms of skeletal muscle channelopathies.
Burge JA et al.
Current Neurology and Neuroscience Reports, 2012
Inter-subunit communication and fast gate integrity are important for common gating in hClC-1.
Cederholm JM et al.
The International Journal of Biochemistry & Cell Biology, 2010
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.
Shalata A et al.
Muscle & Nerve, 2010
Homozygosity for dominant mutations increases severity of muscle channelopathies.
Arzel-Hézode M et al.
Muscle & Nerve, 2010
Recessive CLCN1 mutation presenting as Thomsen disease.
Thomas J et al.
Muscle & Nerve, 2008
Novel chloride channel mutations leading to mild myotonia among Chinese.
Burgunder JM et al.
Neuromuscular Disorders : Nmd, 2008
Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
Bernard G et al.
Journal of Child Neurology, 2008
Clinical evaluation of membrane excitability in muscle channel disorders: potential applications in clinical trials.
Cleland JC et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.
Jou SB et al.
Journal of Neurology, 2004
Involvement of helices at the dimer interface in ClC-1 common gating.
Duffield M et al.
The Journal of General Physiology, 2003
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
Pusch M
Human Mutation, 2002
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
Sun C et al.
European Journal of Human Genetics : Ejhg, 2001
Ion channels in muscle and cardiac hereditary diseases: from gene dysfunction to pharmacological therapy. 10-11 March 2000, Bari, Italy.
Desaphy JF et al.
Neuromuscular Disorders : Nmd, 2001
Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.
Brugnoni R et al.
Human Mutation, 1999
The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia.
Saviane C et al.
The Journal of General Physiology, 1999
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Kubisch C et al.
Human Molecular Genetics, 1998
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
Plassart-Schiess E et al.
Neurology, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
George AL et al.
Human Molecular Genetics, 1994
Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.
Gao F et al.
Neurology India, 0
Myotonia in ion channel diseases of muscle.
Partanen J et al.
Duodecim; Laaketieteellinen Aikakauskirja, 0