Condition: Myopathy


rs73089338 in CDCP1 gene and Myopathy PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.

rs140854723 in EVC2 gene and Myopathy PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.

rs1565930588 in HSPB8 gene and Myopathy PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

rs77051277 in LOC105371433 gene and Myopathy PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.

rs61865606 in LOC105378568 gene and Myopathy PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.

rs1057516031 in MTM1 gene and Myopathy PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs6925743 in PPP1R14C gene and Myopathy PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.

rs121908557 in SCN4A;LOC105371858 gene and Myopathy PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

PMID 19065518 2008 [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].

rs4149056 in SLCO1B1 gene and Myopathy PMID 31220337 2019 The data highlight the role of SLCO1B1 c.521C>T SNP as a replicable genetic risk factor for statin myopathy.

rs33428 in ZNF536 gene and Myopathy PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.