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Text
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<a href="http://doi.org/10.1177/088307380001500110" target="_blank" rel="noreferrer">http://doi.org/10.1177/088307380001500110</a>
Dublin Core
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Title
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Neurologic presentations of mitochondrial disorders
Publisher
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Journal Of Child Neurology
Date
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2000
Subject
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Child; Female; Humans; Male; Follow-Up Studies; Q3 Literature Search; Brain Diseases; Metabolic; Neurologic Examination; Mental Retardation/diagnosis/genetics; Deafness/diagnosis/genetics; Developmental Disabilities/diagnosis/genetics; Inborn/diagnosis/genetics; MELAS Syndrome/diagnosis/genetics; MERRF Syndrome/diagnosis/genetics; Mitochondrial Myopathies/diagnosis/genetics
Creator
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Nissenkorn A; Zeharia A; Lev D; Watemberg N; Fattal-Valevski A; Barash V; Gutman A; Harel S; Lerman-Sagie T
Description
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This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial disorders based on a suggestive clinical presentation and at least one accepted criteria, while in five patients the diagnosis remained probable. All patients had nervous system involvement, but it was the presenting symptom in 28 of 42. Eighteen children had normal intelligence and 24 had mental retardation or developmental delay at the onset of their disease. Twenty-five patients had either an acute regression or a progressive encephalopathy. The most frequent neurologic manifestations were abnormal tone, seizures, extrapyramidal movements, and autonomic dysfunction. The eyes were involved in 11 children. Nerve deafness was found in seven patients. Myopathy was found in only six patients. In conclusion, a complex neurologic picture, especially with other organ involvement, warrants a full mitochondrial evaluation.
2000
Identifier
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<a href="http://doi.org/10.1177/088307380001500110" target="_blank" rel="noreferrer">10.1177/088307380001500110</a>
Rights
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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
2000
Backlog
Barash V
Brain Diseases
Child
Deafness/diagnosis/genetics
Developmental Disabilities/diagnosis/genetics
Fattal-Valevski A
Female
Follow-up Studies
Gutman A
Harel S
Humans
Inborn/diagnosis/genetics
Journal Article
Journal of Child Neurology
Lerman-Sagie T
Lev D
Male
MELAS Syndrome/diagnosis/genetics
Mental Retardation/diagnosis/genetics
MERRF Syndrome/diagnosis/genetics
Metabolic
Mitochondrial Myopathies/diagnosis/genetics
Neurologic Examination
Nissenkorn A
Q3 Scoping Review Results
Watemberg N
Zeharia A