RYR1, ryanodine receptor 1, 6261

N. diseases: 34; N. variants: 121
Disease: Central Core Myopathy (disorder) ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 GeneticVariation disease CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 GeneticVariation disease CLINVAR A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy. 25747005 2015
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 CausalMutation disease CLINVAR Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. 25476234 2014
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 CausalMutation disease CLINVAR RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. 24951453 2014
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 CausalMutation disease CLINVAR Genotype-phenotype correlations in recessive RYR1-related myopathies. 23919265 2013
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 CausalMutation disease CLINVAR Clinical utility gene card for: Central core disease. 21989361 2012
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 CausalMutation disease CLINVAR Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 22473935 2012
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 CausalMutation disease CLINVAR Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 20080402 2010
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 GeneticVariation disease CLINVAR Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 18253926 2008
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 GeneticVariation disease CLINVAR We identified two of nine Brazilian CCD families carrying two mutations in the RYR1 gene. 17226826 2007
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 CausalMutation disease CLINVAR Central core disease is due to RYR1 mutations in more than 90% of patients. 16621918 2006
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		1.000 GeneticVariation disease CLINVAR Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients. 12565913 2003