CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Absence of muscle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		0.010 GeneticVariation disease BEFREE A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy. 14645990 2003