MELAS point mutation with unusual clinical presentation

Gabriella Silvestri; Alan L. Shanske; Sara Shanske; Kurenai Tanji; David Wertheim; Stanley Lipper

doi:10.1016/0960-8966(93)90058-R

MELAS point mutation with unusual clinical presentation

Gabriella Silvestri, Alan L. Shanske, Sara Shanske, Kurenai Tanji, David Wertheim, Stanley Lipper

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Abstract

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.

Original language	English
Pages (from-to)	191-193
Number of pages	3
Journal	Neuromuscular Disorders
Volume	3
DOIs	https://doi.org/10.1016/0960-8966(93)90058-R
Publication status	Published - 1993

Keywords

encephalomyopathy
mtDNA mutation
MELAS

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10.1016/0960-8966(93)90058-R

Cite this

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title = "MELAS point mutation with unusual clinical presentation",

abstract = "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. {\textcopyright} 1993.",

keywords = "encephalomyopathy, mtDNA mutation, MELAS, encephalomyopathy, mtDNA mutation, MELAS",

author = "Gabriella Silvestri and Shanske, {Alan L.} and Sara Shanske and Kurenai Tanji and David Wertheim and Stanley Lipper",

year = "1993",

doi = "10.1016/0960-8966(93)90058-R",

language = "English",

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pages = "191--193",

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publisher = "Elsevier Science Limited:Oxford Fulfillment Center, PO Box 800, Kidlington Oxford OX5 1DX United Kingdom:011 44 1865 843000, 011 44 1865 843699, EMAIL: asianfo@elsevier.com, tcb@elsevier.co.UK, INTERNET: http://www.elsevier.com, http://www.elsevier.com/locate/shpsa/, Fax: 011 44 1865 843010",

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TY - JOUR

T1 - MELAS point mutation with unusual clinical presentation

AU - Silvestri, Gabriella

AU - Shanske, Alan L.

AU - Shanske, Sara

AU - Tanji, Kurenai

AU - Wertheim, David

AU - Lipper, Stanley

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 - encephalomyopathy

KW - mtDNA mutation

KW - MELAS

KW - encephalomyopathy

KW - mtDNA mutation

KW - MELAS

UR - http://hdl.handle.net/10807/166552

U2 - 10.1016/0960-8966(93)90058-R

DO - 10.1016/0960-8966(93)90058-R

M3 - Article

VL - 3

SP - 191

EP - 193

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

ER -

MELAS point mutation with unusual clinical presentation

Abstract

Keywords

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