The V368I mutation in Twinkle does not segregate with adPEO

This publication has 5 references indexed in Scilit:

• Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
  Annals of Neurology, 2002
• Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
  Nature Genetics, 2001
• Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
  Nature Genetics, 2001
• Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance
  Science, 2000
• An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
  Nature, 1989