Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.
Identifieur interne : 000A89 ( Ncbi/Checkpoint ); précédent : 000A88; suivant : 000A90Spasmodic 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. RingmanSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2003.
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
Affiliations:
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pubmed:12784281Le document en format XML
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Ringman</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2003">2003</date><idno type="RBID">pubmed:12784281</idno><idno type="pmid">12784281</idno><idno type="doi">10.1002/mds.10428</idno><idno type="wicri:Area/PubMed/Corpus">003762</idno><idno type="wicri:Area/PubMed/Curation">003762</idno><idno type="wicri:Area/PubMed/Checkpoint">003629</idno><idno type="wicri:Area/Ncbi/Merge">000A89</idno><idno type="wicri:Area/Ncbi/Curation">000A89</idno><idno type="wicri:Area/Ncbi/Checkpoint">000A89</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA.</title><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><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of California at Irvine, Orange, California 92868</wicri:regionArea><wicri:noRegion>California 92868</wicri:noRegion></affiliation></author><author><name sortKey="Crumley, Roger" sort="Crumley, Roger" uniqKey="Crumley R" first="Roger" last="Crumley">Roger Crumley</name></author><author><name sortKey="Ringman, John M" sort="Ringman, John M" uniqKey="Ringman J" first="John M" last="Ringman">John M. Ringman</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2003" type="published">2003</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA, Mitochondrial (metabolism)</term><term>Epilepsies, Myoclonic (complications)</term><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Mitochondrial Diseases (complications)</term><term>Mitochondrial Diseases (genetics)</term><term>Mutation</term><term>Myoclonus (complications)</term><term>Pedigree</term><term>Statistics, Nonparametric</term><term>Voice Disorders (genetics)</term><term>Voice Disorders (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>DNA, Mitochondrial</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Epilepsies, Myoclonic</term><term>Mitochondrial Diseases</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mitochondrial Diseases</term><term>Voice Disorders</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Voice Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Mutation</term><term>Pedigree</term><term>Statistics, Nonparametric</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Crumley, Roger" sort="Crumley, Roger" uniqKey="Crumley R" first="Roger" last="Crumley">Roger Crumley</name><name sortKey="Ringman, John M" sort="Ringman, John M" uniqKey="Ringman J" first="John M" last="Ringman">John M. Ringman</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Peng, Ying" sort="Peng, Ying" uniqKey="Peng Y" first="Ying" last="Peng">Ying Peng</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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