Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84665
Gene Symbol: MYPN
MYPN
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy
0.330 GermlineCausalMutation ORPHANET We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. 28220527

2017