Bethlem myopathy

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Information
Disease name
Bethlem myopathy
Disease ID
DOID:0050663
Description
"A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene." [url:https\://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
COL6A1 21 45,981,770 46,005,048 22
COL6A2 21 46,098,112 46,132,848 22
COL6A3 2 237,324,018 237,414,164 22
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01438788 Completed Phase 2 Low Protein Diet in Patients With Collagen VI Related Myopathies October 2011 September 2013
NCT01895283 Completed N/A The Effect of Aerobic Exercise, on Fitness and Functional Muscle Strength, in Patients With Muscular Dystrophy September 2013 January 2015
NCT04020159 Recruiting Global Registry for COL6-related Dystrophies August 1, 2018 October 2024
NCT03693898 Unknown status N/A MR in Patients With Collagen VI Related Myopathies September 1, 2018 May 1, 2019
Disase is a (Disease Ontology)
DOID:0050557
Cross Reference ID (Disease Ontology)
GARD:873
Cross Reference ID (Disease Ontology)
MESH:C535436
Cross Reference ID (Disease Ontology)
MIM:158810
Exact Synonym (Disease Ontology)
benign congenital muscular dystrophy
OMIM Phenotype Series Number (OMIM)
PS158810
OrphaNumber from OrphaNet (Orphanet)
610
MedGen concept unique identifier (MedGen Concept name)
C1834674
MedGen unique identifier (MedGen Concept name)
331805