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Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis

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References

  1. Ciafaloni E, Santorelli FM, Shanske S et al (1993) Maternally inherited Leigh syndrome.J Pediatr 122: 419–422.

  2. Holt IJ, Harding AE, Petty RKH, Morgan-Hughes JA (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.Am J Hum Genet 46: 428–433.

  3. Tatuch Y, Christodoulou J, Feigenbaum A et al (1992) Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.Am J Hum Genet 50: 852–858.

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Correspondence to J. Zeman.

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Klement, P., Zeman, J., Hansikova, H. et al. Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis. J Inherit Metab Dis 17, 249–250 (1994). https://doi.org/10.1007/BF00711630

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Keywords

  • Public Health
  • Internal Medicine
  • Point Mutation
  • Restriction Fragment
  • Lactic Acidosis