MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: Tubular Aggregate Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.300 Biomarker disease CTD_human Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 17376685 2007