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Clin Mol Pathol 48:M285-M288 doi:10.1136/mp.48.5.M285
  • Short report

Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis

  1. C W Lam,
  2. K Jain,
  3. K Y Chan,
  4. D K Silva,
  5. Y W Chan,
  6. L J C Wong
  1. Princess Margaret Hospital, Lai Chi Kok, Lai King Hill, Hong Kong, Department of Pathology
  2. Department of Paediatrics
  3. Molecular Genetics Laboratory, Children's Hospital of Los Angeles, Los Angeles, USA

      Abstract

      The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction—restriction enzyme analysis, the heteroplasmic nt3243 A→G mutation in mtDNA of peripheral blood leucocytes and a muscle sample was demonstrated. The oligosymptomatic relatives were then screened by this method and the degree of heteroplasmy was analysed. This appears to be the first report of a MELAS family in Hong Kong with this described mutation. Molecular genetic techniques are advantageous in the diagnosis of MELAS.

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