TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Mitochondrial Myopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.110 GeneticVariation group BEFREE The unusual presentation of our patient contributes to expand the clinical phenotype of PEO1 mutations and reinforces the need to consider mitochondrial myopathy as differential diagnosis of myasthenia gravis even in the case of acute onset symptoms. 24014582 2013
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.110 Biomarker group HPO