Distinct distribution of autosomal Dominant spinocerebellar ataxia in the mexican population
Identifieur interne : 001668 ( PascalFrancis/Curation ); précédent : 001667; suivant : 001669Distinct distribution of autosomal Dominant spinocerebellar ataxia in the mexican population
Auteurs : Elisa Alonso [Mexique] ; Leticia Martinez-Ruano [Mexique] ; Irene De Biase [États-Unis] ; Christopher Mader [Mexique] ; Adriana Ochoa [Mexique] ; Petra Yescas [Mexique] ; Roxana Gutierrez [Mexique] ; Misti White [États-Unis] ; Luis Ruano [Mexique] ; Marcela Fragoso-Benitez [Mexique] ; Tetsuo Ashizawa [États-Unis] ; Sanjay I. Bidichandani [États-Unis] ; Astrid Rasmussen [Mexique]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations.
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<author><name sortKey="Alonso, Elisa" sort="Alonso, Elisa" uniqKey="Alonso E" first="Elisa" last="Alonso">Elisa Alonso</name>
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<s2>Mexico City</s2>
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<author><name sortKey="Martinez Ruano, Leticia" sort="Martinez Ruano, Leticia" uniqKey="Martinez Ruano L" first="Leticia" last="Martinez-Ruano">Leticia Martinez-Ruano</name>
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<author><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name>
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<author><name sortKey="Gutierrez, Roxana" sort="Gutierrez, Roxana" uniqKey="Gutierrez R" first="Roxana" last="Gutierrez">Roxana Gutierrez</name>
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<author><name sortKey="White, Misti" sort="White, Misti" uniqKey="White M" first="Misti" last="White">Misti White</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, The University of Texas Medical Branch</s1>
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<author><name sortKey="Ruano, Luis" sort="Ruano, Luis" uniqKey="Ruano L" first="Luis" last="Ruano">Luis Ruano</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Division of Neurology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suárez</s1>
<s2>Mexico City</s2>
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<author><name sortKey="Fragoso Benitez, Marcela" sort="Fragoso Benitez, Marcela" uniqKey="Fragoso Benitez M" first="Marcela" last="Fragoso-Benitez">Marcela Fragoso-Benitez</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Faculty of Medicine, Universidad La Salle</s1>
<s2>Mexico City</s2>
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<author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, The University of Texas Medical Branch</s1>
<s2>Galveston, Texas</s2>
<s3>USA</s3>
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<author><name sortKey="Bidichandani, Sanjay I" sort="Bidichandani, Sanjay I" uniqKey="Bidichandani S" first="Sanjay I." last="Bidichandani">Sanjay I. Bidichandani</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Pediatrics, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
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<author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
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<country>Mexique</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Distinct distribution of autosomal Dominant spinocerebellar ataxia in the mexican population</title>
<author><name sortKey="Alonso, Elisa" sort="Alonso, Elisa" uniqKey="Alonso E" first="Elisa" last="Alonso">Elisa Alonso</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
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<author><name sortKey="Martinez Ruano, Leticia" sort="Martinez Ruano, Leticia" uniqKey="Martinez Ruano L" first="Leticia" last="Martinez-Ruano">Leticia Martinez-Ruano</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
</affiliation>
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<author><name sortKey="De Biase, Irene" sort="De Biase, Irene" uniqKey="De Biase I" first="Irene" last="De Biase">Irene De Biase</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
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<author><name sortKey="Mader, Christopher" sort="Mader, Christopher" uniqKey="Mader C" first="Christopher" last="Mader">Christopher Mader</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Medicine Faculty, Universidad Nacional Autónoma de México</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
</affiliation>
</author>
<author><name sortKey="Ochoa, Adriana" sort="Ochoa, Adriana" uniqKey="Ochoa A" first="Adriana" last="Ochoa">Adriana Ochoa</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
</affiliation>
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<author><name sortKey="Yescas, Petra" sort="Yescas, Petra" uniqKey="Yescas P" first="Petra" last="Yescas">Petra Yescas</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
</affiliation>
</author>
<author><name sortKey="Gutierrez, Roxana" sort="Gutierrez, Roxana" uniqKey="Gutierrez R" first="Roxana" last="Gutierrez">Roxana Gutierrez</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Chemistry Faculty, Universidad Nacional Autónoma de México</s1>
<s2>México City</s2>
<s3>MEX</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
</affiliation>
</author>
<author><name sortKey="White, Misti" sort="White, Misti" uniqKey="White M" first="Misti" last="White">Misti White</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, The University of Texas Medical Branch</s1>
<s2>Galveston, Texas</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Ruano, Luis" sort="Ruano, Luis" uniqKey="Ruano L" first="Luis" last="Ruano">Luis Ruano</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Division of Neurology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suárez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
</affiliation>
</author>
<author><name sortKey="Fragoso Benitez, Marcela" sort="Fragoso Benitez, Marcela" uniqKey="Fragoso Benitez M" first="Marcela" last="Fragoso-Benitez">Marcela Fragoso-Benitez</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Faculty of Medicine, Universidad La Salle</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
</affiliation>
</author>
<author><name sortKey="Ashizawa, Tetsuo" sort="Ashizawa, Tetsuo" uniqKey="Ashizawa T" first="Tetsuo" last="Ashizawa">Tetsuo Ashizawa</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, The University of Texas Medical Branch</s1>
<s2>Galveston, Texas</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Bidichandani, Sanjay I" sort="Bidichandani, Sanjay I" uniqKey="Bidichandani S" first="Sanjay I." last="Bidichandani">Sanjay I. Bidichandani</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Pediatrics, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
</affiliation>
</author>
<author><name sortKey="Rasmussen, Astrid" sort="Rasmussen, Astrid" uniqKey="Rasmussen A" first="Astrid" last="Rasmussen">Astrid Rasmussen</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Mexique</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term>
<term>Spinocerebellar ataxia</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Ataxie spinocérébelleuse</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)<sub>33</sub>
allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations.</div>
</front>
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<fA11 i1="01" i2="1"><s1>ALONSO (Elisa)</s1>
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<fA11 i1="02" i2="1"><s1>MARTINEZ-RUANO (Leticia)</s1>
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<fA11 i1="03" i2="1"><s1>DE BIASE (Irene)</s1>
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<fA11 i1="04" i2="1"><s1>MADER (Christopher)</s1>
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<fA11 i1="06" i2="1"><s1>YESCAS (Petra)</s1>
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<fA11 i1="07" i2="1"><s1>GUTIERREZ (Roxana)</s1>
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<fA11 i1="08" i2="1"><s1>WHITE (Misti)</s1>
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<fA11 i1="09" i2="1"><s1>RUANO (Luis)</s1>
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<fA11 i1="10" i2="1"><s1>FRAGOSO-BENITEZ (Marcela)</s1>
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<fA11 i1="11" i2="1"><s1>ASHIZAWA (Tetsuo)</s1>
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<fA11 i1="12" i2="1"><s1>BIDICHANDANI (Sanjay I.)</s1>
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<fA11 i1="13" i2="1"><s1>RASMUSSEN (Astrid)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurogenetics and Molecular Biology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suârez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>13 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Medicine Faculty, Universidad Nacional Autónoma de México</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Chemistry Faculty, Universidad Nacional Autónoma de México</s1>
<s2>México City</s2>
<s3>MEX</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Neurology, The University of Texas Medical Branch</s1>
<s2>Galveston, Texas</s2>
<s3>USA</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Division of Neurology, Instituto Nacional de Neurología y Neurocirugia Manuel Velasco Suárez</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Faculty of Medicine, Universidad La Salle</s1>
<s2>Mexico City</s2>
<s3>MEX</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Pediatrics, University of Oklahoma Health Sciences Center</s1>
<s2>Oklahoma City, Oklahoma</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
</fA14>
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<s1>© 2007 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>25 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>07-0314970</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)<sub>33</sub>
allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Ataxie spinocérébelleuse</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Spinocerebellar ataxia</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Ataxia spinocerebelosa</s0>
<s2>NM</s2>
<s5>09</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fN21><s1>204</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>
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