CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: HyperCKmia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4724975
Disease: HyperCKmia
HyperCKmia 		0.010 GeneticVariation disease BEFREE The CAPN3 gene mutation c.550delA is rather frequently observed in German patients with LGMD2, but also occasionally in cases with isolated hyperCKemia. 17702496 2007