CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Becker Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.020 Biomarker disease BEFREE The conditions studied were scans of genetically confirmed cases of Becker muscular dystrophy (BMD) (n = 28), LGMD2C-F (sarcoglycanopathies) (n = 11), LGMD2I (n = 4), LGMD1B (n = 26), LGMD2A (n = 24), Bethlem myopathy (n = 14), and LGMD2L (n = 11). 23035061 2012
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		0.020 Biomarker disease BEFREE We studied muscle regeneration in 22 patients with LGMD2A with calpain 3 deficiency, in five patients with LGMD2I, with a secondary reduction in calpain 3, and in five patients with Becker muscular dystrophy (BMD) with normal calpain 3 levels. 22443334 2012