Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report.
Identifieur interne : 002105 ( Ncbi/Checkpoint ); précédent : 002104; suivant : 002106Cerebellar 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
Affiliations:
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pubmed:18412280Le document en format XML
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<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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<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>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Point Mutation</term>
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<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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<name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
<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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