MovDisordV3, Ncbi, Merge, bibRecord, 000A89

Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.

Identifieur interne : 000A89 ( Ncbi/Merge ); précédent : 000A88; suivant : 000A90

Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.

Auteurs : Ying Peng [États-Unis] ; Roger Crumley ; John M. Ringman

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2003.

RBID : pubmed:12784281

English descriptors

KwdEn :
- DNA, Mitochondrial (metabolism), Epilepsies, Myoclonic (complications), Female, Humans, Middle Aged, Mitochondrial Diseases (complications), Mitochondrial Diseases (genetics), Mutation, Myoclonus (complications), Pedigree, Statistics, Nonparametric, Voice Disorders (genetics), Voice Disorders (metabolism).
MESH :
- chemical , metabolism : DNA, Mitochondrial.
- complications : Epilepsies, Myoclonic, Mitochondrial Diseases, Myoclonus.
- genetics : Mitochondrial Diseases, Voice Disorders.
- metabolism : Voice Disorders.
- Female, Humans, Middle Aged, Mutation, Pedigree, Statistics, Nonparametric.

Abstract

Dystonia has been described in various diseases affecting mitochondrial function but spasmodic dysphonia, a form of focal dystonia, has not. We present a patient with action myoclonus affecting the hands and arms who carried the most common mutation in mitochondrial DNA causing the myoclonic epilepsy and ragged red fibers (MERRF) syndrome (the A-->G substitution at nucleotide 8344 in the tRNA(Lys) gene). This patient also had spasmodic dysphonia that was responsive to treatment with intralaryngeal botulinum toxin.

DOI: 10.1002/mds.10428
PubMed: 12784281

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

to stream PubMed, to step Corpus: 003762
to stream PubMed, to step Curation: 003762
to stream PubMed, to step Checkpoint: 003629

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pubmed:12784281

Le document en format XML

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<author><name sortKey="Peng, Ying" sort="Peng, Ying" uniqKey="Peng Y" first="Ying" last="Peng">Ying Peng</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University of California at Irvine, Orange, California 92868, USA.</nlm:affiliation>
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<term>Middle Aged</term>
<term>Mitochondrial Diseases (complications)</term>
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<front><div type="abstract" xml:lang="en">Dystonia has been described in various diseases affecting mitochondrial function but spasmodic dysphonia, a form of focal dystonia, has not. We present a patient with action myoclonus affecting the hands and arms who carried the most common mutation in mitochondrial DNA causing the myoclonic epilepsy and ragged red fibers (MERRF) syndrome (the A-->G substitution at nucleotide 8344 in the tRNA(Lys) gene). This patient also had spasmodic dysphonia that was responsive to treatment with intralaryngeal botulinum toxin.</div>
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<Abstract><AbstractText>Dystonia has been described in various diseases affecting mitochondrial function but spasmodic dysphonia, a form of focal dystonia, has not. We present a patient with action myoclonus affecting the hands and arms who carried the most common mutation in mitochondrial DNA causing the myoclonic epilepsy and ragged red fibers (MERRF) syndrome (the A-->G substitution at nucleotide 8344 in the tRNA(Lys) gene). This patient also had spasmodic dysphonia that was responsive to treatment with intralaryngeal botulinum toxin.</AbstractText>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.

Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.

Source :

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

Pour générer des pages wiki