Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.

@article{Torroni2003MitochondrialDH,
  title={Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.},
  author={Antonio Torroni and Yolanda Le{\'o}n Campos and Chiara Rengo and Daniele Sellitto and Alessandro Achilli and Chiara Magri and Ornella Semino and Alberto Pedroso Garc{\'i}a and Pilar Jara and J. J. Ag{\"u}era Arenas and Rosaria Scozzari},
  journal={American journal of human genetics},
  year={2003},
  volume={72 4},
  pages={
          1005-12
        }
}
Thirty-five mitochondrial (mt) DNAs from Spain that harbor the mutation A3243G in association with either MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) syndrome or a wide array of disease phenotypes (ranging from diabetes and deafness to a mixture of chronic progressive external ophthalmoplegic symptoms and strokelike episodes) were studied by use of high-resolution restriction fragment length polymorphism analysis and control-region sequencing. A… CONTINUE READING
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