Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

@article{Mariotti1995GenotypeTP,
  title={Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA},
  author={Caterina Mariotti and Nicola Savarese and Anu Suomalainen and Marco Rimoldi and Giacomo Comi and Alessandro Prelle and Carlo Antozzi and Serena Servidei and Laura Jarre and Stefano Didonato and Massimo Zeviani},
  journal={Journal of Neurology},
  year={1995},
  volume={242},
  pages={304-312}
}
We studied 22 subjects carrying the A3243G point mutation of human mitochondrial DNA (mtDNA). In 14 cases the clinical phenotype was characterized by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), while 8 patients had chronic progressive external ophthalmoplegia (CPEO). The proportion of A3243G heteroplasmy in muscle was… CONTINUE READING