Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

@article{Rtig1992MaternallyID,
  title={Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.},
  author={Agn{\`e}s R{\"o}tig and Jo{\"e}l Bessis and N. Garc{\'i}a Romero and Val{\'e}rie Cormier and J M Saudubray and Philippe Narcy and Gilbert M. Lenoir and Pierre Rustin and Arnold Munnich},
  journal={American journal of human genetics},
  year={1992},
  volume={50 2},
  pages={364-70}
}
Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a pluritissular disorder including diabetes mellitus, skin abnormalities, mitochondrial myopathy with ragged-red fibers, and cerebellar ataxia. Their mother had ptosis, ophthalmoplegia, and muscle weakness. Analysis of the mitochondrial respiratory chain showed a complex III deficiency in both skeletal muscle and lymphocytes of the second girl. Southern blot analysis… CONTINUE READING
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