Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. Issue 5 (October 1995)

• Record Type: Journal Article
• Authors: Lam, C W; Jain, K; Chan, K Y; Silva, D K; Chan, Y W; Wong, L J C
• Is Part Of: Journal of clinical pathology. Volume 48:Issue 5(1995)
• Page Start: M285
• Page End: M288
• Publication Date: 1995-10
• Subjects: Mitochondrial encephalomyopathy; MELAS syndrome; mitochondrial mutation; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/mp.48.5.M285
• Languages: English
• ISSNs: 0021-9746

Abstract

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.