rs1208189109, MATR3

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Reducing-body myopathy
CUI: C0270970
Disease: Reducing-body myopathy
0.010 GeneticVariation BEFREE We found one FHL1 mutation (c.311G>A, p.C104Y) in a boy with rapidly progressive muscle weakness and reducing body myopathy who was initially diagnosed with muscular dystrophy. 21683594 2011