Article Text

PDF

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.
  1. A Fryer,
  2. R Appleton,
  3. M G Sweeney,
  4. L Rosenbloom,
  5. A E Harding
  1. Royal Liverpool Children's Hospital (Alder Hey), Department of Clinical Genetics.

    Abstract

    The mitochondrial DNA (mtDNA) mutation 8993 is an important cause of Leigh's encephalopathy. A family is reported where other affected members have presented with non-specific delayed development or cerebral palsy. The diagnosis should be considered not only in children with Leigh's encephalopathy, but also in those with mild neurological dysfunction (including cerebral palsy) if there is a pigmentary retinopathy or a family history of neurological or ophthalmological disease. There was some correlation in this family between the disease severity and the proportion of mutant mtDNA in the blood. This mutation appears to segregate to high levels of mutant mtDNA rapidly within pedigrees and the mother of a severely affected child has a high risk of having further children with a high proportion of mutant mtDNA and a severe phenotype.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.