AICDA, activation induced cytidine deaminase, 57379

N. diseases: 265; N. variants: 16
Disease: Multi-core congenital myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		0.010 Biomarker disease BEFREE The diagnosis of MmD is based on the presence of suggestive clinical features and multiple cores on muscle biopsy; muscle MRI may aid genetic testing as patterns of selective muscle involvement are distinct depending on the genetic background. 17631035 2007