rs132630304, MTM1

N. diseases: 3
Disease: Congenital Structural Myopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Structural Myopathy
CUI: C0752282
Disease: Congenital Structural Myopathy
0.010 GeneticVariation BEFREE Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. 22068590 2012