Myotonia

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Information
Disease name
Myotonia
Disease ID
Description
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
ACAD9 3 128,879,620 128,913,114 8
CFAP92 3 128,909,873 128,994,076 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00832000 Completed Phase 2 Effectiveness of Mexiletine for Treating People With Non-Dystrophic Myotonia December 2008 March 2011
NCT06411288 Recruiting Phase 3 Global Study of Del-desiran for the Treatment of DM1 May 30, 2024 April 2027
NCT00745238 Unknown status N/A Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy June 2008 December 2012
HPO alt_id (Human Phenotype Ontology)
HP:0003632
HPO alt_id (Human Phenotype Ontology)
HP:0003754
HPO alt_id (Human Phenotype Ontology)
HP:0003792
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0002486
MeSH unique ID (MeSH (Medical Subject Headings))
D009222