Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report.
Identifieur interne : 002105 ( Ncbi/Curation ); 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
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Werneck</name></author><author><name sortKey="Bruhn, Helene" sort="Bruhn, Helene" uniqKey="Bruhn H" first="Helene" last="Bruhn">Helene Bruhn</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term><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></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Mitochondrial</term><term>RNA, Transfer, Lys</term></keywords><keywords scheme="MESH" qualifier="diagnosis" 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></keywords><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></keywords><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><term>Middle Aged</term><term>Neurologic Examination</term><term>Point Mutation</term><term>Tomography, X-Ray Computed</term></keywords></textClass></profileDesc></teiHeader></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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