Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis |
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Authors: | C W Lam K Jain K Y Chan D K Silva Y W Chan and L J C Wong |
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Affiliation: | Princess Margaret Hospital, Lai Chi Kok, Lai King Hill, Hong Kong, Department of Pathology;Department of Paediatrics;Molecular Genetics Laboratory, Children''s Hospital of Los Angeles, Los Angeles, USA |
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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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