TY - JOUR
T1 - MELAS point mutation with unusual clinical presentation
AU - Shanske, A. L.
AU - Shanske, S.
AU - Silvestri, Gabriella
AU - Tanji, K.
AU - Wertheim, D.
AU - Lipper, S.
PY - 1993
Y1 - 1993
N2 - 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. © 1993.
AB - 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. © 1993.
KW - MELAS
KW - encephalomyopathy
KW - mtDNA mutation
KW - MELAS
KW - encephalomyopathy
KW - mtDNA mutation
UR - https://publicatt.unicatt.it/handle/10807/166552
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=0027268334&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0027268334&origin=inward
U2 - 10.1016/0960-8966(93)90058-R
DO - 10.1016/0960-8966(93)90058-R
M3 - Article
SN - 0960-8966
VL - 3
SP - 191
EP - 193
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 3
ER -