rs132630304, MTM1

N. diseases: 3
Disease: Centronuclear myopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Centronuclear myopathy
CUI: C0175709
Disease: Centronuclear 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