MYOT, myotilin, 9499

N. diseases: 82; N. variants: 6
Disease: Distal Muscular Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.040 GeneticVariation group BEFREE Lower limb radiology of distal myopathy due to the S60F myotilin mutation. 19590214 2009
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.040 GeneticVariation group BEFREE Disease phenotypes associated with MYOT mutations are clinically heterogeneous and include pure LGMD forms as well as late-onset distal myopathies. 19027924 2009
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.040 GeneticVariation group BEFREE Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. 17698502 2008
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.040 GeneticVariation group LHGDN Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). 16674563 2006