Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report
Identifieur interne : 002951 ( Main/Exploration ); précédent : 002950; suivant : 002952Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report
Auteurs : Hélio A. G. Teive [Brésil] ; Renato P. Munhoz [Brésil] ; Juliano A. Muzzio [Brésil] ; Rosana H. Scola [Brésil] ; Cláudia K. Kay [Brésil] ; Salmo Raskin [Brésil] ; Lineu C. Werneck [Brésil] ; Helene Bruhn [Suède]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-06-15.
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.
Url:
DOI: 10.1002/mds.21990
Affiliations:
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<term>Biopsy</term>
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<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>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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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebellum</term>
<term>Muscle, Skeletal</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Atrophy</term>
<term>Biopsy</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
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<term>Neurologic Examination</term>
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<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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