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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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Curated Studies
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
Plateau potentials contribute to myotonia in mouse models of myotonia congenita.
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.
The mechanism underlying transient weakness in myotonia congenita.
A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature …
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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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