MELAS point mutation with unusual clinical presentation.
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a multisystemic mitochondrial disorder (Pavlakis et al. Advances in Contemporary Neurology. Philadelphia: Davis, 1988: 95-133) and most patients with the typical MELAS phenotype have a point mutation in mitochondrial DNA, an A to G transition at nucleotide 3243 (Goto et al. Nature 1990; 348; 651-653; Koboyashi et al. Biochem Biophys Res Commun 1990; 173: 816-822; Ciafaloni et al. Ann Neurol 1992; 31: 391-398). A 9-yr-old boy presenting with chronic asthma and depression was found to have abnormal mitochondria, partial defects of respiratory chain enzymes, and the MELAS point mutation.
Shanske
A L
AL
Department of Pediatrics, Queens Hospital Center Affiliation, Albert Einstein College of Medicine, Jamaica, NY 11432.
Shanske
S
S
Silvestri
G
G
Tanji
K
K
Wertheim
D
D
Lipper
S
S
D000137:Acid-Base Imbalance / Q000378:metabolism; D002648:Child; D004247:DNA / Q000378:metabolism; D004562:Electrocardiography; D004830:Epilepsy, Tonic-Clonic / Q000473:pathology; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014057:Tomography, X-Ray Computed
D004247:DNA