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Text
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<a href="http://doi.org/10.1177/08830738050200080701" target="_blank" rel="noreferrer">http://doi.org/10.1177/08830738050200080701</a>
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Title
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Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations
Publisher
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Journal Of Child Neurology
Date
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2005
Subject
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Female; Humans; infant; Male; Phenotype; infant; Q3 Literature Search; Newborn; DNA Mutational Analysis; Muscle; Skeletal/pathology; Proteins/genetics; Frameshift Mutation; Cytochrome-c Oxidase Deficiency/complications/genetics/pathology; Kidney Diseases/etiology; Leigh Disease/complications/genetics/pathology; Membrane Proteins; Mitochondrial Proteins
Creator
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Tay SK; Sacconi S; Akman HO; Morales JF; Morales A; De Vivo DC; Shanske S; Bonilla E; DiMauro S
Description
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Mutations in the SURF1 gene are the most frequent causes of Leigh disease with cytochrome c oxidase deficiency. We describe four children with novel SURF1 mutations and unusual features: three had prominent renal symptoms and one had ragged red fibers in the muscle biopsy. We identified five pathogenic mutations in SURF1: two mutations were novel, an in-frame nonsense mutation (834G-->A) and an out-of-frame duplication (820-824dupTACAT). Although renal manifestations have not been described in association with SURF1 mutations, they can be part of the clinical presentation. Likewise, mitochondrial proliferation in muscle (with ragged red fibers) is most unusual in Leigh disease but might be part of an emerging phenotype.
2005
Identifier
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<a href="http://doi.org/10.1177/08830738050200080701" target="_blank" rel="noreferrer">10.1177/08830738050200080701</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
2005
Akman HO
Backlog
Bonilla E
Cytochrome-c Oxidase Deficiency/complications/genetics/pathology
De Vivo DC
DiMauro S
DNA Mutational Analysis
Female
Frameshift Mutation
Humans
Infant
Journal Article
Journal of Child Neurology
Kidney Diseases/etiology
Leigh Disease/complications/genetics/pathology
Male
Membrane Proteins
Mitochondrial Proteins
Morales A
Morales JF
Muscle
Newborn
Phenotype
Proteins/genetics
Q3 Scoping Review Results
Sacconi S
Shanske S
Skeletal/pathology
Tay SK