MovDisordV3, PascalFrancis, Curation, bibRecord, 001312

Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

Identifieur interne : 001312 ( PascalFrancis/Curation ); précédent : 001311; suivant : 001313

Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

Auteurs : Keiko Hiramoto [Japon] ; Hideshi Kawakami [Japon] ; Kimiko Inoue [Japon] ; Takahiro Seki [Japon] ; Hirofumi Maruyama [Japon] ; Hiroyuki Morino [Japon] ; Masayasu Matsumoto [Japon] ; Kaoru Kurisu [Japon] ; Norio Sakai [Japon]

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0518087

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Ataxie spinocérébelleuse, Japonais, Dépistage, Exon, Protein kinase C, Mutation ponctuelle.

English descriptors

KwdEn :
- Exon, Japanese, Medical screening, Nervous system diseases, Point mutation, Protein kinase C, Spinocerebellar ataxia.

Abstract

Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)-based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high-performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Serll9-to-Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR-based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low.

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A08	`01`	`1`	`ENG`	`@1 Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4`
A11	`01`	`1`		`@1 HIRAMOTO (Keiko)`
A11	`02`	`1`		`@1 KAWAKAMI (Hideshi)`
A11	`03`	`1`		`@1 INOUE (Kimiko)`
A11	`04`	`1`		`@1 SEKI (Takahiro)`
A11	`05`	`1`		`@1 MARUYAMA (Hirofumi)`
A11	`06`	`1`		`@1 MORINO (Hiroyuki)`
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A11	`08`	`1`		`@1 KURISU (Kaoru)`
A11	`09`	`1`		`@1 SAKAI (Norio)`
A14	`01`			`@1 Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University @2 Minami-ku, Hiroshima @3 JPN @Z 1 aut. @Z 8 aut.`
A14	`02`			`@1 Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University @2 Minami-ku, Hiroshima @3 JPN @Z 1 aut. @Z 4 aut. @Z 9 aut.`
A14	`03`			`@1 Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University @2 Minami-ku, Hiroshima @3 JPN @Z 2 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut.`
A14	`04`			`@1 Department of Neurology, Hyogo Rehabilitation Center Hospital @2 Nishi-ku, Kobe @3 JPN @Z 3 aut.`
A20				`@1 1355-1360`
A21				`@1 2006`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000158780860090`
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C01	`01`		`ENG`	@0 Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)-based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high-performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Serll9-to-Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR-based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low.
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C03	`05`	`X`	`SPA`	`@0 Exón @5 12`
C03	`06`	`X`	`FRE`	`@0 Protein kinase C @2 FE @5 13`
C03	`06`	`X`	`ENG`	`@0 Protein kinase C @2 FE @5 13`
C03	`06`	`X`	`SPA`	`@0 Protein kinase C @2 FE @5 13`
C03	`07`	`X`	`FRE`	`@0 Mutation ponctuelle @5 14`
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C03	`07`	`X`	`SPA`	`@0 Mutación puntual @5 14`
C07	`01`	`X`	`FRE`	`@0 Transferases @2 FE`
C07	`01`	`X`	`ENG`	`@0 Transferases @2 FE`
C07	`01`	`X`	`SPA`	`@0 Transferases @2 FE`
C07	`02`	`X`	`FRE`	`@0 Enzyme @2 FE`
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C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 37`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 37`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 37`
C07	`04`	`X`	`FRE`	`@0 Maladie héréditaire @5 38`
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C07	`05`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 39`
C07	`05`	`X`	`ENG`	`@0 Central nervous system disease @5 39`
C07	`05`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 39`
N21				`@1 338`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Links toward previous steps (curation, corpus...)

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Pascal:06-0518087

Le document en format XML

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<author><name sortKey="Maruyama, Hirofumi" sort="Maruyama, Hirofumi" uniqKey="Maruyama H" first="Hirofumi" last="Maruyama">Hirofumi Maruyama</name>
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<author><name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name>
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<author><name sortKey="Kurisu, Kaoru" sort="Kurisu, Kaoru" uniqKey="Kurisu K" first="Kaoru" last="Kurisu">Kaoru Kurisu</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</title>
<author><name sortKey="Hiramoto, Keiko" sort="Hiramoto, Keiko" uniqKey="Hiramoto K" first="Keiko" last="Hiramoto">Keiko Hiramoto</name>
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<author><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University</s1>
<s2>Minami-ku, Hiroshima</s2>
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<author><name sortKey="Inoue, Kimiko" sort="Inoue, Kimiko" uniqKey="Inoue K" first="Kimiko" last="Inoue">Kimiko Inoue</name>
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<author><name sortKey="Seki, Takahiro" sort="Seki, Takahiro" uniqKey="Seki T" first="Takahiro" last="Seki">Takahiro Seki</name>
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<s2>Minami-ku, Hiroshima</s2>
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<author><name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name>
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<author><name sortKey="Matsumoto, Masayasu" sort="Matsumoto, Masayasu" uniqKey="Matsumoto M" first="Masayasu" last="Matsumoto">Masayasu Matsumoto</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University</s1>
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<author><name sortKey="Kurisu, Kaoru" sort="Kurisu, Kaoru" uniqKey="Kurisu K" first="Kaoru" last="Kurisu">Kaoru Kurisu</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University</s1>
<s2>Minami-ku, Hiroshima</s2>
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<author><name sortKey="Sakai, Norio" sort="Sakai, Norio" uniqKey="Sakai N" first="Norio" last="Sakai">Norio Sakai</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University</s1>
<s2>Minami-ku, Hiroshima</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
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<country>Japon</country>
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<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="2006">2006</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Exon</term>
<term>Japanese</term>
<term>Medical screening</term>
<term>Nervous system diseases</term>
<term>Point mutation</term>
<term>Protein kinase C</term>
<term>Spinocerebellar ataxia</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Ataxie spinocérébelleuse</term>
<term>Japonais</term>
<term>Dépistage</term>
<term>Exon</term>
<term>Protein kinase C</term>
<term>Mutation ponctuelle</term>
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<front><div type="abstract" xml:lang="en">Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)-based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high-performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Serll9-to-Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR-based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low.</div>
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<fA06><s2>9</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>HIRAMOTO (Keiko)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>KAWAKAMI (Hideshi)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>INOUE (Kimiko)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>SEKI (Takahiro)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>MARUYAMA (Hirofumi)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>MORINO (Hiroyuki)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>MATSUMOTO (Masayasu)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>KURISU (Kaoru)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>SAKAI (Norio)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University</s1>
<s2>Minami-ku, Hiroshima</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Molecular and Pharmacological Neuroscience, Graduate School of Biomedical Sciences, Hiroshima University</s1>
<s2>Minami-ku, Hiroshima</s2>
<s3>JPN</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University</s1>
<s2>Minami-ku, Hiroshima</s2>
<s3>JPN</s3>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, Hyogo Rehabilitation Center Hospital</s1>
<s2>Nishi-ku, Kobe</s2>
<s3>JPN</s3>
<sZ>3 aut.</sZ>
</fA14>
<fA20><s1>1355-1360</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000158780860090</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>18 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>06-0518087</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>Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C γ in SCA14 families. Most of those mutations have been found in exon 4 of the PRKCG gene. We performed polymerase chain reaction (PCR)-based screening to clarify the approximate morbidity rate of the disease in the Japanese SCA population. We screened exon 4 of the PRKCG gene in 882 SCA patients with undefined etiologies using denaturing high-performance liquid chromatography and subsequent direct sequencing. We found a novel C/T missense mutation with a Serll9-to-Phe substitution (S119F) in 2 patients and subsequently found that they belonged to the same family. This S119F mutation was not found in 259 control individuals. Further PCR-based analysis revealed an additional 5 members with the same mutation in this family. Cerebellar ataxia was manifested in 5 of those 7 members. The main symptom in 4 of the 5 affected members was pure cerebellar ataxia with late onset. They had no myoclonus, extrapyramidal signs, ophthalmoplegia, or intellectual disturbance, some of which were found in previously reported SCA families. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low.</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>002B05C02B</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>
<fC03 i1="03" i2="X" l="FRE"><s0>Japonais</s0>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Japanese</s0>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Japonés</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Dépistage</s0>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Medical screening</s0>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Descubrimiento</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Exon</s0>
<s5>12</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Exon</s0>
<s5>12</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Exón</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Protein kinase C</s0>
<s2>FE</s2>
<s5>13</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Protein kinase C</s0>
<s2>FE</s2>
<s5>13</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Protein kinase C</s0>
<s2>FE</s2>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Mutation ponctuelle</s0>
<s5>14</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Point mutation</s0>
<s5>14</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Mutación puntual</s0>
<s5>14</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Transferases</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Enzyme</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enzima</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>37</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>38</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fN21><s1>338</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

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