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myotonia congenita
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
CLCN1
SCN4A
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
transmission of nerve impulse
action potential
muscle contraction
transmembrane transporter complex
Voltage gated sodium channel, alpha-4 subunit, mammalian
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Most Correlated Studies
OMIM - Congenital disorder
Skeletal muscle biopsies from patients with myotonic dystrophy and other neuromuscular disorders
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Literature
Most Relevant Literature
A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].
Clinical and genetic characteristics of myotonia congenita in Chinese population.
Plateau potentials contribute to myotonia in mouse models of myotonia congenita.
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant a…
The mechanism underlying transient weakness in myotonia congenita.
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Clinical Trials
Most Relevant Clinical Trials
Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1
Lamotrigine as Treatment of Myotonia
Relations Between Myotonia and Fitness
Mexiletine and Non Dystrophic Myotonias
Characteristics of Nondystrophic Myotonias
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