Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report.
Identifieur interne : 002256 ( PubMed/Curation ); précédent : 002255; suivant : 002257Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report.
Auteurs : Hélio A G. Teive ; Renato P. Munhoz ; Juliano A. Muzzio ; Rosana H. Scola ; Cláudia K. Kay ; Salmo Raskin ; Lineu C. Werneck ; Helene BruhnSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Alleles, Atrophy, Biopsy, Cerebellar Ataxia (diagnosis), Cerebellar Ataxia (genetics), Cerebellum (pathology), DNA, Mitochondrial (genetics), Dysarthria (diagnosis), Dysarthria (genetics), Head and Neck Neoplasms (diagnosis), Head and Neck Neoplasms (genetics), Humans, Lipoma (diagnosis), Lipoma (genetics), MERRF Syndrome (diagnosis), MERRF Syndrome (genetics), Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal (pathology), Myoclonus (diagnosis), Myoclonus (genetics), Neurologic Examination, Point Mutation, RNA, Transfer, Lys (genetics), Tomography, X-Ray Computed.
- MESH :
- chemical , genetics : DNA, Mitochondrial, RNA, Transfer, Lys.
- diagnosis : Cerebellar Ataxia, Dysarthria, Head and Neck Neoplasms, Lipoma, MERRF Syndrome, Myoclonus.
- genetics : Cerebellar Ataxia, Dysarthria, Head and Neck Neoplasms, Lipoma, MERRF Syndrome, Myoclonus.
- pathology : Cerebellum, Muscle, Skeletal.
- Alleles, Atrophy, Biopsy, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neurologic Examination, Point Mutation, Tomography, X-Ray Computed.
DOI: 10.1002/mds.21990
PubMed: 18412280
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pubmed:18412280Le document en format XML
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<author><name sortKey="Teive, Helio A G" sort="Teive, Helio A G" uniqKey="Teive H" first="Hélio A G" last="Teive">Hélio A G. Teive</name>
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<author><name sortKey="Munhoz, Renato P" sort="Munhoz, Renato P" uniqKey="Munhoz R" first="Renato P" last="Munhoz">Renato P. Munhoz</name>
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<author><name sortKey="Muzzio, Juliano A" sort="Muzzio, Juliano A" uniqKey="Muzzio J" first="Juliano A" last="Muzzio">Juliano A. Muzzio</name>
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<author><name sortKey="Scola, Rosana H" sort="Scola, Rosana H" uniqKey="Scola R" first="Rosana H" last="Scola">Rosana H. Scola</name>
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<author><name sortKey="Kay, Claudia K" sort="Kay, Claudia K" uniqKey="Kay C" first="Cláudia K" last="Kay">Cláudia K. Kay</name>
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<term>Atrophy</term>
<term>Biopsy</term>
<term>Cerebellar Ataxia (diagnosis)</term>
<term>Cerebellar Ataxia (genetics)</term>
<term>Cerebellum (pathology)</term>
<term>DNA, Mitochondrial (genetics)</term>
<term>Dysarthria (diagnosis)</term>
<term>Dysarthria (genetics)</term>
<term>Head and Neck Neoplasms (diagnosis)</term>
<term>Head and Neck Neoplasms (genetics)</term>
<term>Humans</term>
<term>Lipoma (diagnosis)</term>
<term>Lipoma (genetics)</term>
<term>MERRF Syndrome (diagnosis)</term>
<term>MERRF Syndrome (genetics)</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Muscle, Skeletal (pathology)</term>
<term>Myoclonus (diagnosis)</term>
<term>Myoclonus (genetics)</term>
<term>Neurologic Examination</term>
<term>Point Mutation</term>
<term>RNA, Transfer, Lys (genetics)</term>
<term>Tomography, X-Ray Computed</term>
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<term>RNA, Transfer, Lys</term>
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<term>Dysarthria</term>
<term>Head and Neck Neoplasms</term>
<term>Lipoma</term>
<term>MERRF Syndrome</term>
<term>Myoclonus</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cerebellar Ataxia</term>
<term>Dysarthria</term>
<term>Head and Neck Neoplasms</term>
<term>Lipoma</term>
<term>MERRF Syndrome</term>
<term>Myoclonus</term>
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<term>Atrophy</term>
<term>Biopsy</term>
<term>Humans</term>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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