Multiple deletions of mitochondrial DNA in muscle from a patient with benign progressive external ophthalmoplegia

@article{Campos1996MultipleDO,
  title={Multiple deletions of mitochondrial DNA in muscle from a patient with benign progressive external ophthalmoplegia},
  author={Yolanda Campos and Miguel Angel Mart{\'i}n and Juan C. Rubio and C{\'e}cile Ricard and A. Mara{\~n}on Cabello and J. Olier Arenas},
  journal={Journal of Inherited Metabolic Disease},
  year={1996},
  volume={19},
  pages={366-367}
}
Multiple deletions of mtDNA are associated with a wide range of clinical phenotypes (DiMauro and Moraes 1993), usually showing a Mendelian inheritance pattern. There are also sporadic cases. This 25-year-old man was asymptomatic until age 17 years. Then he noticed bilateral ptosis, and at age 20, began developing progressive external ophthalmoplegia (McKusick 165130) without diplopia. Examination at age 25 revealed marked bilateral ptosis, external ophthalmoplegia, and normal strength in the… CONTINUE READING