title: Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis.
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.
authors.affiliation: Princess Margaret Hospital, Lai Chi Kok, Lai King Hill, Hong Kong, Department of Pathology.
authors.forename: C W
authors.initials: CW
authors.lastname: Lam
authors.forename: K
authors.initials: K
authors.lastname: Jain
authors.forename: K Y
authors.initials: KY
authors.lastname: Chan
authors.forename: D K
authors.initials: DK
authors.lastname: Silva
authors.forename: Y W
authors.initials: YW
authors.lastname: Chan
authors.forename: L J
authors.initials: LJ
authors.lastname: Wong