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Text
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<a href="http://doi.org/10.1002/ana.410340107" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.410340107</a>
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Title
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Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations
Publisher
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Annals Of Neurology
Date
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1993
Subject
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Child; Female; Humans; Male; Molecular Sequence Data; Preschool; infant; Q3 Literature Search; Tomography; X-Ray Computed; Base Sequence; Capillaries/pathology; DNA/analysis; Electron; MELAS Syndrome/genetics/pathology/radiography; Microscopy; Mitochondria/pathology; Muscles/pathology
Creator
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Koo B; Becker LE; Chuang S; Merante F; Robinson BH; MacGregor D; Tein I; Ho VB; McGreal DA; Wherrett JR
Description
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We reviewed 10 patients (5 males, 5 females) with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The age of symptom onset ranged from 3 months to 12 years. All had lactic acidosis, multiple stroke-like events with secondary neurological deficits, radiological changes of progressive brain infarction, and muscle biopsy showing ragged-red fibers. In patients with earlier onset of symptoms (< 2 yr), involvement tended to be more diffuse, with failure to thrive and early onset of delayed development. Patients whose symptoms appeared later tended to have focal neurological deficits with migraine-like headache, and a rate of cognitive regression reflecting the rapidity of disease progression. Radiological changes included multiple areas of infarction with initial predilection for parietal occipital areas, progressing to generalized atrophy. Pathological findings in muscle biopsies included type 1 fiber predominance, ragged-red fibers, increased intermyofibrillar lipid deposition, and abnormal mitochondria. Four patients showed mitochondrial DNA tRNA mutation at position 3,243. No difference was noted in clinical, radiological, or pathological findings in patients with and without this mutation, suggesting that multiple sites of point mutation may give rise to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
1993
Identifier
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<a href="http://doi.org/10.1002/ana.410340107" target="_blank" rel="noreferrer">10.1002/ana.410340107</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
1993
Annals Of Neurology
Backlog
Base Sequence
Becker LE
Capillaries/pathology
Child
Chuang S
DNA/analysis
Electron
Female
Ho VB
Humans
Infant
Journal Article
Koo B
MacGregor D
Male
McGreal DA
MELAS Syndrome/genetics/pathology/radiography
Merante F
Microscopy
Mitochondria/pathology
Molecular Sequence Data
Muscles/pathology
Preschool
Q3 Scoping Review Results
Robinson BH
Tein I
Tomography
Wherrett JR
X-Ray Computed