MovDisordV3, Main, Merge, bibRecord, 005A34

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

Identifieur interne : 005A34 ( Main/Merge ); précédent : 005A33; suivant : 005A35

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

Auteurs : Michael D. Brown [États-Unis] ; Seyed Hosseini [États-Unis] ; Israel Steiner [Israël] ; Douglas C. Wallace [États-Unis] ; Isabelle Korn-Lubetzki [Israël]

Source :

Movement disorders [ 0885-3185 ] ; 2004.

RBID : Pascal:04-0365464

Descripteurs français

Pascal (Inist)
- Dystonie, DNA mitochondrial, Séquence nucléotide, Ataxie optique, Système nerveux pathologie.

English descriptors

KwdEn :
- Dystonia, Mitochondrial DNA, Nervous system diseases, Nucleotide sequence, Optic ataxia.

Abstract

The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNA^Gly mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 002162
to stream PascalFrancis, to step Curation: 000B59
to stream PascalFrancis, to step Checkpoint: 002196

Links to Exploration step

Pascal:04-0365464

Le document en format XML

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<author><name sortKey="Brown, Michael D" sort="Brown, Michael D" uniqKey="Brown M" first="Michael D." last="Brown">Michael D. Brown</name>
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<author><name sortKey="Korn Lubetzki, Isabelle" sort="Korn Lubetzki, Isabelle" uniqKey="Korn Lubetzki I" first="Isabelle" last="Korn-Lubetzki">Isabelle Korn-Lubetzki</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy</title>
<author><name sortKey="Brown, Michael D" sort="Brown, Michael D" uniqKey="Brown M" first="Michael D." last="Brown">Michael D. Brown</name>
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<author><name sortKey="Hosseini, Seyed" sort="Hosseini, Seyed" uniqKey="Hosseini S" first="Seyed" last="Hosseini">Seyed Hosseini</name>
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<country>États-Unis</country>
<placeName><region type="state">Géorgie (États-Unis)</region>
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<author><name sortKey="Steiner, Israel" sort="Steiner, Israel" uniqKey="Steiner I" first="Israel" last="Steiner">Israel Steiner</name>
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<author><name sortKey="Korn Lubetzki, Isabelle" sort="Korn Lubetzki, Isabelle" uniqKey="Korn Lubetzki I" first="Isabelle" last="Korn-Lubetzki">Isabelle Korn-Lubetzki</name>
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<s3>ISR</s3>
<sZ>5 aut.</sZ>
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<country>Israël</country>
<wicri:noRegion>Jerusalem</wicri:noRegion>
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<series><title level="j" type="main">Movement disorders</title>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<term>Optic ataxia</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>DNA mitochondrial</term>
<term>Séquence nucléotide</term>
<term>Ataxie optique</term>
<term>Système nerveux pathologie</term>
</keywords>
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<front><div type="abstract" xml:lang="en">The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNA<sup>Gly</sup>
 mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and unaffected family members and we were unable to demonstrate a biochemical defect in patient mitochondria. Hence, it is unlikely that a mtDNA mutation accounts for the phenotype in this family.</div>
</front>
</TEI>
<affiliations><list><country><li>Israël</li>
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<tree><country name="États-Unis"><region name="Géorgie (États-Unis)"><name sortKey="Brown, Michael D" sort="Brown, Michael D" uniqKey="Brown M" first="Michael D." last="Brown">Michael D. Brown</name>
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<name sortKey="Hosseini, Seyed" sort="Hosseini, Seyed" uniqKey="Hosseini S" first="Seyed" last="Hosseini">Seyed Hosseini</name>
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<name sortKey="Korn Lubetzki, Isabelle" sort="Korn Lubetzki, Isabelle" uniqKey="Korn Lubetzki I" first="Isabelle" last="Korn-Lubetzki">Isabelle Korn-Lubetzki</name>
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</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri