A case of dysferlinopathy presenting choreic movements.
Identifieur interne : 001770 ( Ncbi/Curation ); précédent : 001769; suivant : 001771A case of dysferlinopathy presenting choreic movements.
Auteurs : Toshiaki Takahashi [Japon] ; Masashi Aoki ; Takashi Imai ; Masaru Yoshioka ; Hidehiko Konno ; Shuichi Higano ; Yoshiaki Onodera ; Hiroshi Saito ; Itaru Kimura ; Yasuto ItoyamaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Brain (pathology), Chorea (diagnosis), Chorea (genetics), Codon, Cysteine (genetics), DNA Mutational Analysis, Homozygote, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins (genetics), Mental Status Schedule, Middle Aged, Muscle Proteins (genetics), Muscular Dystrophies, Limb-Girdle (diagnosis), Muscular Dystrophies, Limb-Girdle (genetics), Neurologic Examination, Nucleotide Mapping, Trypsin (genetics).
- MESH :
- chemical , genetics : Cysteine, Membrane Proteins, Muscle Proteins, Trypsin.
- chemical : Codon.
- diagnosis : Chorea, Muscular Dystrophies, Limb-Girdle.
- genetics : Chorea, Muscular Dystrophies, Limb-Girdle.
- pathology : Brain.
- DNA Mutational Analysis, Homozygote, Humans, Magnetic Resonance Imaging, Male, Mental Status Schedule, Middle Aged, Neurologic Examination, Nucleotide Mapping.
Abstract
Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin.
DOI: 10.1002/mds.21027
PubMed: 16817213
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pubmed:16817213Le document en format XML
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Masaru" uniqKey="Yoshioka M" first="Masaru" last="Yoshioka">Masaru Yoshioka</name></author><author><name sortKey="Konno, Hidehiko" sort="Konno, Hidehiko" uniqKey="Konno H" first="Hidehiko" last="Konno">Hidehiko Konno</name></author><author><name sortKey="Higano, Shuichi" sort="Higano, Shuichi" uniqKey="Higano S" first="Shuichi" last="Higano">Shuichi Higano</name></author><author><name sortKey="Onodera, Yoshiaki" sort="Onodera, Yoshiaki" uniqKey="Onodera Y" first="Yoshiaki" last="Onodera">Yoshiaki Onodera</name></author><author><name sortKey="Saito, Hiroshi" sort="Saito, Hiroshi" uniqKey="Saito H" first="Hiroshi" last="Saito">Hiroshi Saito</name></author><author><name sortKey="Kimura, Itaru" sort="Kimura, Itaru" uniqKey="Kimura I" first="Itaru" last="Kimura">Itaru Kimura</name></author><author><name sortKey="Itoyama, Yasuto" sort="Itoyama, Yasuto" uniqKey="Itoyama Y" first="Yasuto" last="Itoyama">Yasuto Itoyama</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.21027</idno><idno type="RBID">pubmed:16817213</idno><idno type="pmid">16817213</idno><idno type="wicri:Area/PubMed/Corpus">002B67</idno><idno type="wicri:Area/PubMed/Curation">002B67</idno><idno type="wicri:Area/PubMed/Checkpoint">002F02</idno><idno type="wicri:Area/Ncbi/Merge">001770</idno><idno type="wicri:Area/Ncbi/Curation">001770</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A case of dysferlinopathy presenting choreic movements.</title><author><name sortKey="Takahashi, Toshiaki" sort="Takahashi, Toshiaki" uniqKey="Takahashi T" first="Toshiaki" last="Takahashi">Toshiaki Takahashi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Aoki, Masashi" sort="Aoki, Masashi" uniqKey="Aoki M" first="Masashi" last="Aoki">Masashi Aoki</name></author><author><name sortKey="Imai, Takashi" sort="Imai, Takashi" uniqKey="Imai T" first="Takashi" last="Imai">Takashi Imai</name></author><author><name sortKey="Yoshioka, Masaru" sort="Yoshioka, Masaru" uniqKey="Yoshioka M" first="Masaru" last="Yoshioka">Masaru Yoshioka</name></author><author><name sortKey="Konno, Hidehiko" sort="Konno, Hidehiko" uniqKey="Konno H" first="Hidehiko" last="Konno">Hidehiko Konno</name></author><author><name sortKey="Higano, Shuichi" sort="Higano, Shuichi" uniqKey="Higano S" first="Shuichi" last="Higano">Shuichi Higano</name></author><author><name sortKey="Onodera, Yoshiaki" sort="Onodera, Yoshiaki" uniqKey="Onodera Y" first="Yoshiaki" last="Onodera">Yoshiaki Onodera</name></author><author><name sortKey="Saito, Hiroshi" sort="Saito, Hiroshi" uniqKey="Saito H" first="Hiroshi" last="Saito">Hiroshi Saito</name></author><author><name sortKey="Kimura, Itaru" sort="Kimura, Itaru" uniqKey="Kimura I" first="Itaru" last="Kimura">Itaru Kimura</name></author><author><name sortKey="Itoyama, Yasuto" sort="Itoyama, Yasuto" uniqKey="Itoyama Y" first="Yasuto" last="Itoyama">Yasuto Itoyama</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="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (pathology)</term><term>Chorea (diagnosis)</term><term>Chorea (genetics)</term><term>Codon</term><term>Cysteine (genetics)</term><term>DNA Mutational Analysis</term><term>Homozygote</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Mental Status Schedule</term><term>Middle Aged</term><term>Muscle Proteins (genetics)</term><term>Muscular Dystrophies, Limb-Girdle (diagnosis)</term><term>Muscular Dystrophies, Limb-Girdle (genetics)</term><term>Neurologic Examination</term><term>Nucleotide Mapping</term><term>Trypsin (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cysteine</term><term>Membrane Proteins</term><term>Muscle Proteins</term><term>Trypsin</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term><term>Muscular Dystrophies, Limb-Girdle</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Muscular Dystrophies, Limb-Girdle</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Homozygote</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mental Status Schedule</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Nucleotide Mapping</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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