MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: Myotubular Myopathy with Abnormal Genital Development ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846169
Disease: Myotubular Myopathy with Abnormal Genital Development
Myotubular Myopathy with Abnormal Genital Development 		0.300 ChromosomalRearrangement disease ORPHANET Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. 8789451 1996