MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Disease: Generalized muscle weakness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.110 GeneticVariation phenotype BEFREE The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a severe and generalized muscle weakness at birth. 21129173 2010
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		0.110 Biomarker phenotype HPO