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Progressive external ophthalmoplegia with mitochondrial DNA "deletions," autosomal dominant 4
- ... DNA deletions, autosomal dominant 1 Genetic Testing Registry: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 Genetic Testing Registry: Progressive external ophthalmoplegia with ...
- ... the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. ... DNA: unraveling the pathogenesis of human mitochondrial DNA instability ...
- ... droop (ptosis). When caused by SLC25A4 gene mutations, progressive external ... amount of DNA, known as mitochondrial DNA (mtDNA), which is essential ...
- ... a cytosolic process in mammalian cells independently of DNA damage. Proc Natl Acad Sci U S ... with multiple mtDNA deletions. Am J Hum Genet. 2009 Aug;85(2): ...
- ... of the condition that is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. ANS MIRAS Mitochondrial recessive ataxia syndrome SANDO Sensory ataxia neuropathy dysarthria ...
