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myotonic disorders
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
SCN4A
CLCN1
DMPK
COL21A1
MAFF
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
cytosol
TTGTTT_FOXO4_01
CUI_TCF21_TARGETS_2_DN
REN_ALVEOLAR_RHABDOMYOSARCOMA_DN
nucleoplasm
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Curated Studies
Most Correlated Studies
Hearts from heart-specific DM1 model EpA960-MCM expressing DMPK with CUG repeats
Vastrus lateralis biopsies from myotonic dystrophy type 2 patients
Heart ventricles with CELF1 expression induced for 12, 24, 72 hours and for 7 days
Left ventricles from myotonic dystrophic type 1 (DM1) patients
Heart and skeletal muscles from Duchenne muscular dystrophy, myotonic dystrophy type 1 or 2 subjects
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Literature
Most Relevant Literature
The diagnosis and treatment of myotonic disorders.
Electrodiagnosis of myotonic disorders.
Nav 1.4 slow-inactivation: is it a player in the warm-up phenomenon of myotonic disorders?
Myotonic disorders.
Differential diagnosis of myotonic disorders.
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Clinical Trials
Most Relevant Clinical Trials
Open Label Study in Adolescents and Children With Myotonic Disorders
An Observational Study in Adult Patients With Non-dystrophic Myotonic Disorders
Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ?
Myotonic Dystrophy Family Registry
Myotonic Dystrophy - Vascular and Cognition
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