AustralieFrV1, PascalFrancis, Corpus, bibRecord, 005A23

Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study

Identifieur interne : 005A23 ( PascalFrancis/Corpus ); précédent : 005A22; suivant : 005A24

Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study

Auteurs : Y. He ; K. J. Jones ; N. Vignier ; G. Morgan ; M. Chevallay ; A. Barois ; B. Estournet-Mathiaud ; H. Hori ; T. Mizuta ; F. M. S. Tome ; K. N. North ; P. Guicheney

Source :

Neurology [ 0028-3878 ] ; 2001.

RBID : Pascal:02-0063926

Descripteurs français

Pascal (Inist)
- Dystrophie musculaire, Congénital, Déficit, Laminine, Chaîne peptidique α, Mutation, Gène, Immunohistochimie, Phénotype, Etude cas, Déterminisme génétique, Enfant, Mâle.

English descriptors

KwdEn :
- Alpha-Peptide chain, Case study, Child, Congenital, Deficiency, Gene, Genetic determinism, Immunohistochemistry, Laminin, Male, Muscular dystrophy, Mutation, Phenotype.

Abstract

Article abstract-The authors report a case of congenital muscular dystrophy with mild nonprogressive muscle weakness, white matter hypodensity, and absence of the laminin a2 chain in muscle fibers with two antibodies, but not with four others. They identified mutations in LAMA2, which explain the partial laminin a2 deficiency. Analysis of this case and two others allows us to refine the epitopes of two of the commercial antibodies, and illustrate the importance of using antibodies directed against different domains of the protein.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0028-3878`
A02	`01`			`@0 NEURAI`
A03		`1`		`@0 Neurology`
A05				`@2 57`
A06				`@2 7`
A08	`01`	`1`	`ENG`	`@1 Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study`
A11	`01`	`1`		`@1 HE (Y.)`
A11	`02`	`1`		`@1 JONES (K. J.)`
A11	`03`	`1`		`@1 VIGNIER (N.)`
A11	`04`	`1`		`@1 MORGAN (G.)`
A11	`05`	`1`		`@1 CHEVALLAY (M.)`
A11	`06`	`1`		`@1 BAROIS (A.)`
A11	`07`	`1`		`@1 ESTOURNET-MATHIAUD (B.)`
A11	`08`	`1`		`@1 HORI (H.)`
A11	`09`	`1`		`@1 MIZUTA (T.)`
A11	`10`	`1`		`@1 TOME (F. M. S.)`
A11	`11`	`1`		`@1 NORTH (K. N.)`
A11	`12`	`1`		`@1 GUICHENEY (P.)`
A14	`01`			`@1 INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière @2 Paris @3 FRA @Z 1 aut. @Z 3 aut. @Z 5 aut. @Z 10 aut. @Z 12 aut.`
A14	`02`			`@1 Institute for Neuromuscular Research, The Children's Hospital at Westmead @2 Sydney @3 AUS @Z 2 aut. @Z 11 aut.`
A14	`03`			`@1 Department of Paediatrics and Child Health, University of Sydney @3 AUS @Z 2 aut. @Z 11 aut.`
A14	`04`			`@1 Sydney Children's Hospital @2 Randwick @3 AUS @Z 4 aut.`
A14	`05`			`@1 Service de Pédiatrie-Réanimation Infantile, Hôpital Raymond-Poincaré @2 Garches @3 FRA @Z 6 aut. @Z 7 aut.`
A14	`06`			`@1 Medical Research Institute, Medical and Dental University @2 Tokyo @3 JPN @Z 8 aut.`
A14	`07`			`@1 Department of Internal Medicine, Saga Medical School @2 Nabeshima @3 JPN @Z 9 aut.`
A20				`@1 1319-1322`
A21				`@1 2001`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 6345 @5 354000099229650290`
A44				`@0 0000 @1 © 2002 INIST-CNRS. All rights reserved.`
A45				`@0 10 ref.`
A47	`01`	`1`		`@0 02-0063926`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Neurology`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Article abstract-The authors report a case of congenital muscular dystrophy with mild nonprogressive muscle weakness, white matter hypodensity, and absence of the laminin a2 chain in muscle fibers with two antibodies, but not with four others. They identified mutations in LAMA2, which explain the partial laminin a2 deficiency. Analysis of this case and two others allows us to refine the epitopes of two of the commercial antibodies, and illustrate the importance of using antibodies directed against different domains of the protein.
C02	`01`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Dystrophie musculaire @5 01`
C03	`01`	`X`	`ENG`	`@0 Muscular dystrophy @5 01`
C03	`01`	`X`	`SPA`	`@0 Distrofia muscular @5 01`
C03	`02`	`X`	`FRE`	`@0 Congénital @5 02`
C03	`02`	`X`	`ENG`	`@0 Congenital @5 02`
C03	`02`	`X`	`SPA`	`@0 Congénito @5 02`
C03	`03`	`X`	`FRE`	`@0 Déficit @5 04`
C03	`03`	`X`	`ENG`	`@0 Deficiency @5 04`
C03	`03`	`X`	`SPA`	`@0 Déficiencia @5 04`
C03	`04`	`X`	`FRE`	`@0 Laminine @5 05`
C03	`04`	`X`	`ENG`	`@0 Laminin @5 05`
C03	`04`	`X`	`SPA`	`@0 Laminina @5 05`
C03	`05`	`X`	`FRE`	`@0 Chaîne peptidique α @5 06`
C03	`05`	`X`	`ENG`	`@0 Alpha-Peptide chain @5 06 @6 «Alpha-»Peptide chain`
C03	`05`	`X`	`SPA`	`@0 Cadena peptídica α @5 06`
C03	`06`	`X`	`FRE`	`@0 Mutation @5 07`
C03	`06`	`X`	`ENG`	`@0 Mutation @5 07`
C03	`06`	`X`	`SPA`	`@0 Mutación @5 07`
C03	`07`	`X`	`FRE`	`@0 Gène @5 08`
C03	`07`	`X`	`ENG`	`@0 Gene @5 08`
C03	`07`	`X`	`SPA`	`@0 Gen @5 08`
C03	`08`	`X`	`FRE`	`@0 Immunohistochimie @5 10`
C03	`08`	`X`	`ENG`	`@0 Immunohistochemistry @5 10`
C03	`08`	`X`	`SPA`	`@0 Inmunohistoquímica @5 10`
C03	`09`	`X`	`FRE`	`@0 Phénotype @5 13`
C03	`09`	`X`	`ENG`	`@0 Phenotype @5 13`
C03	`09`	`X`	`SPA`	`@0 Fenotipo @5 13`
C03	`10`	`X`	`FRE`	`@0 Etude cas @5 17`
C03	`10`	`X`	`ENG`	`@0 Case study @5 17`
C03	`10`	`X`	`SPA`	`@0 Estudio caso @5 17`
C03	`11`	`X`	`FRE`	`@0 Déterminisme génétique @5 18`
C03	`11`	`X`	`ENG`	`@0 Genetic determinism @5 18`
C03	`11`	`X`	`SPA`	`@0 Determinismo genético @5 18`
C03	`12`	`X`	`FRE`	`@0 Enfant @5 20`
C03	`12`	`X`	`ENG`	`@0 Child @5 20`
C03	`12`	`X`	`SPA`	`@0 Niño @5 20`
C03	`13`	`X`	`FRE`	`@0 Mâle @5 21`
C03	`13`	`X`	`ENG`	`@0 Male @5 21`
C03	`13`	`X`	`SPA`	`@0 Macho @5 21`
C07	`01`	`X`	`FRE`	`@0 Homme`
C07	`01`	`X`	`ENG`	`@0 Human`
C07	`01`	`X`	`SPA`	`@0 Hombre`
C07	`02`	`X`	`FRE`	`@0 Système nerveux pathologie @5 37`
C07	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 37`
C07	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 37`
C07	`03`	`X`	`FRE`	`@0 Neuromusculaire pathologie @5 38`
C07	`03`	`X`	`ENG`	`@0 Neuromuscular diseases @5 38`
C07	`03`	`X`	`SPA`	`@0 Neuromuscular patología @5 38`
C07	`04`	`X`	`FRE`	`@0 Maladie héréditaire @5 39`
C07	`04`	`X`	`ENG`	`@0 Genetic disease @5 39`
C07	`04`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 39`
C07	`05`	`X`	`FRE`	`@0 Maladie congénitale @5 40`
C07	`05`	`X`	`ENG`	`@0 Congenital disease @5 40`
C07	`05`	`X`	`SPA`	`@0 Enfermedad congénita @5 40`
C07	`06`	`X`	`FRE`	`@0 Anatomopathologie @5 61`
C07	`06`	`X`	`ENG`	`@0 Pathology @5 61`
C07	`06`	`X`	`SPA`	`@0 Anatomía patológica @5 61`
N21				`@1 028`

Format Inist (serveur)

NO :	PASCAL 02-0063926 INIST
ET :	Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study
AU :	HE (Y.); JONES (K. J.); VIGNIER (N.); MORGAN (G.); CHEVALLAY (M.); BAROIS (A.); ESTOURNET-MATHIAUD (B.); HORI (H.); MIZUTA (T.); TOME (F. M. S.); NORTH (K. N.); GUICHENEY (P.)
AF :	INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière/Paris/France (1 aut., 3 aut., 5 aut., 10 aut., 12 aut.); Institute for Neuromuscular Research, The Children's Hospital at Westmead/Sydney/Australie (2 aut., 11 aut.); Department of Paediatrics and Child Health, University of Sydney/Australie (2 aut., 11 aut.); Sydney Children's Hospital/Randwick/Australie (4 aut.); Service de Pédiatrie-Réanimation Infantile, Hôpital Raymond-Poincaré/Garches/France (6 aut., 7 aut.); Medical Research Institute, Medical and Dental University/Tokyo/Japon (8 aut.); Department of Internal Medicine, Saga Medical School/Nabeshima/Japon (9 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2001; Vol. 57; No. 7; Pp. 1319-1322; Bibl. 10 ref.
LA :	Anglais
EA :	Article abstract-The authors report a case of congenital muscular dystrophy with mild nonprogressive muscle weakness, white matter hypodensity, and absence of the laminin a2 chain in muscle fibers with two antibodies, but not with four others. They identified mutations in LAMA2, which explain the partial laminin a2 deficiency. Analysis of this case and two others allows us to refine the epitopes of two of the commercial antibodies, and illustrate the importance of using antibodies directed against different domains of the protein.
CC :	002B17H
FD :	Dystrophie musculaire; Congénital; Déficit; Laminine; Chaîne peptidique α; Mutation; Gène; Immunohistochimie; Phénotype; Etude cas; Déterminisme génétique; Enfant; Mâle
FG :	Homme; Système nerveux pathologie; Neuromusculaire pathologie; Maladie héréditaire; Maladie congénitale; Anatomopathologie
ED :	Muscular dystrophy; Congenital; Deficiency; Laminin; Alpha-Peptide chain; Mutation; Gene; Immunohistochemistry; Phenotype; Case study; Genetic determinism; Child; Male
EG :	Human; Nervous system diseases; Neuromuscular diseases; Genetic disease; Congenital disease; Pathology
SD :	Distrofia muscular; Congénito; Déficiencia; Laminina; Cadena peptídica α; Mutación; Gen; Inmunohistoquímica; Fenotipo; Estudio caso; Determinismo genético; Niño; Macho
LO :	INIST-6345.354000099229650290
ID :	02-0063926

Links to Exploration step

Pascal:02-0063926

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study</title>
<author><name sortKey="He, Y" sort="He, Y" uniqKey="He Y" first="Y." last="He">Y. He</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Jones, K J" sort="Jones, K J" uniqKey="Jones K" first="K. J." last="Jones">K. J. Jones</name>
<affiliation><inist:fA14 i1="02"><s1>Institute for Neuromuscular Research, The Children's Hospital at Westmead</s1>
<s2>Sydney</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Department of Paediatrics and Child Health, University of Sydney</s1>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vignier, N" sort="Vignier, N" uniqKey="Vignier N" first="N." last="Vignier">N. Vignier</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Morgan, G" sort="Morgan, G" uniqKey="Morgan G" first="G." last="Morgan">G. Morgan</name>
<affiliation><inist:fA14 i1="04"><s1>Sydney Children's Hospital</s1>
<s2>Randwick</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Chevallay, M" sort="Chevallay, M" uniqKey="Chevallay M" first="M." last="Chevallay">M. Chevallay</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Barois, A" sort="Barois, A" uniqKey="Barois A" first="A." last="Barois">A. Barois</name>
<affiliation><inist:fA14 i1="05"><s1>Service de Pédiatrie-Réanimation Infantile, Hôpital Raymond-Poincaré</s1>
<s2>Garches</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Estournet Mathiaud, B" sort="Estournet Mathiaud, B" uniqKey="Estournet Mathiaud B" first="B." last="Estournet-Mathiaud">B. Estournet-Mathiaud</name>
<affiliation><inist:fA14 i1="05"><s1>Service de Pédiatrie-Réanimation Infantile, Hôpital Raymond-Poincaré</s1>
<s2>Garches</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hori, H" sort="Hori, H" uniqKey="Hori H" first="H." last="Hori">H. Hori</name>
<affiliation><inist:fA14 i1="06"><s1>Medical Research Institute, Medical and Dental University</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Mizuta, T" sort="Mizuta, T" uniqKey="Mizuta T" first="T." last="Mizuta">T. Mizuta</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Internal Medicine, Saga Medical School</s1>
<s2>Nabeshima</s2>
<s3>JPN</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Tome, F M S" sort="Tome, F M S" uniqKey="Tome F" first="F. M. S." last="Tome">F. M. S. Tome</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="North, K N" sort="North, K N" uniqKey="North K" first="K. N." last="North">K. N. North</name>
<affiliation><inist:fA14 i1="02"><s1>Institute for Neuromuscular Research, The Children's Hospital at Westmead</s1>
<s2>Sydney</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Department of Paediatrics and Child Health, University of Sydney</s1>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Guicheney, P" sort="Guicheney, P" uniqKey="Guicheney P" first="P." last="Guicheney">P. Guicheney</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">02-0063926</idno>
<date when="2001">2001</date>
<idno type="stanalyst">PASCAL 02-0063926 INIST</idno>
<idno type="RBID">Pascal:02-0063926</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">005A23</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study</title>
<author><name sortKey="He, Y" sort="He, Y" uniqKey="He Y" first="Y." last="He">Y. He</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Jones, K J" sort="Jones, K J" uniqKey="Jones K" first="K. J." last="Jones">K. J. Jones</name>
<affiliation><inist:fA14 i1="02"><s1>Institute for Neuromuscular Research, The Children's Hospital at Westmead</s1>
<s2>Sydney</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Department of Paediatrics and Child Health, University of Sydney</s1>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Vignier, N" sort="Vignier, N" uniqKey="Vignier N" first="N." last="Vignier">N. Vignier</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Morgan, G" sort="Morgan, G" uniqKey="Morgan G" first="G." last="Morgan">G. Morgan</name>
<affiliation><inist:fA14 i1="04"><s1>Sydney Children's Hospital</s1>
<s2>Randwick</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Chevallay, M" sort="Chevallay, M" uniqKey="Chevallay M" first="M." last="Chevallay">M. Chevallay</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Barois, A" sort="Barois, A" uniqKey="Barois A" first="A." last="Barois">A. Barois</name>
<affiliation><inist:fA14 i1="05"><s1>Service de Pédiatrie-Réanimation Infantile, Hôpital Raymond-Poincaré</s1>
<s2>Garches</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Estournet Mathiaud, B" sort="Estournet Mathiaud, B" uniqKey="Estournet Mathiaud B" first="B." last="Estournet-Mathiaud">B. Estournet-Mathiaud</name>
<affiliation><inist:fA14 i1="05"><s1>Service de Pédiatrie-Réanimation Infantile, Hôpital Raymond-Poincaré</s1>
<s2>Garches</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hori, H" sort="Hori, H" uniqKey="Hori H" first="H." last="Hori">H. Hori</name>
<affiliation><inist:fA14 i1="06"><s1>Medical Research Institute, Medical and Dental University</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Mizuta, T" sort="Mizuta, T" uniqKey="Mizuta T" first="T." last="Mizuta">T. Mizuta</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Internal Medicine, Saga Medical School</s1>
<s2>Nabeshima</s2>
<s3>JPN</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Tome, F M S" sort="Tome, F M S" uniqKey="Tome F" first="F. M. S." last="Tome">F. M. S. Tome</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="North, K N" sort="North, K N" uniqKey="North K" first="K. N." last="North">K. N. North</name>
<affiliation><inist:fA14 i1="02"><s1>Institute for Neuromuscular Research, The Children's Hospital at Westmead</s1>
<s2>Sydney</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="03"><s1>Department of Paediatrics and Child Health, University of Sydney</s1>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Guicheney, P" sort="Guicheney, P" uniqKey="Guicheney P" first="P." last="Guicheney">P. Guicheney</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<imprint><date when="2001">2001</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alpha-Peptide chain</term>
<term>Case study</term>
<term>Child</term>
<term>Congenital</term>
<term>Deficiency</term>
<term>Gene</term>
<term>Genetic determinism</term>
<term>Immunohistochemistry</term>
<term>Laminin</term>
<term>Male</term>
<term>Muscular dystrophy</term>
<term>Mutation</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystrophie musculaire</term>
<term>Congénital</term>
<term>Déficit</term>
<term>Laminine</term>
<term>Chaîne peptidique α</term>
<term>Mutation</term>
<term>Gène</term>
<term>Immunohistochimie</term>
<term>Phénotype</term>
<term>Etude cas</term>
<term>Déterminisme génétique</term>
<term>Enfant</term>
<term>Mâle</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Article abstract-The authors report a case of congenital muscular dystrophy with mild nonprogressive muscle weakness, white matter hypodensity, and absence of the laminin a2 chain in muscle fibers with two antibodies, but not with four others. They identified mutations in LAMA2, which explain the partial laminin a2 deficiency. Analysis of this case and two others allows us to refine the epitopes of two of the commercial antibodies, and illustrate the importance of using antibodies directed against different domains of the protein.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0028-3878</s0>
</fA01>
<fA02 i1="01"><s0>NEURAI</s0>
</fA02>
<fA03 i2="1"><s0>Neurology</s0>
</fA03>
<fA05><s2>57</s2>
</fA05>
<fA06><s2>7</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>HE (Y.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>JONES (K. J.)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>VIGNIER (N.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>MORGAN (G.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>CHEVALLAY (M.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>BAROIS (A.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>ESTOURNET-MATHIAUD (B.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>HORI (H.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>MIZUTA (T.)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>TOME (F. M. S.)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>NORTH (K. N.)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>GUICHENEY (P.)</s1>
</fA11>
<fA14 i1="01"><s1>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Institute for Neuromuscular Research, The Children's Hospital at Westmead</s1>
<s2>Sydney</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Paediatrics and Child Health, University of Sydney</s1>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Sydney Children's Hospital</s1>
<s2>Randwick</s2>
<s3>AUS</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Service de Pédiatrie-Réanimation Infantile, Hôpital Raymond-Poincaré</s1>
<s2>Garches</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Medical Research Institute, Medical and Dental University</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Internal Medicine, Saga Medical School</s1>
<s2>Nabeshima</s2>
<s3>JPN</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA20><s1>1319-1322</s1>
</fA20>
<fA21><s1>2001</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>6345</s2>
<s5>354000099229650290</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2002 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>10 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>02-0063926</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Neurology</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Article abstract-The authors report a case of congenital muscular dystrophy with mild nonprogressive muscle weakness, white matter hypodensity, and absence of the laminin a2 chain in muscle fibers with two antibodies, but not with four others. They identified mutations in LAMA2, which explain the partial laminin a2 deficiency. Analysis of this case and two others allows us to refine the epitopes of two of the commercial antibodies, and illustrate the importance of using antibodies directed against different domains of the protein.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Dystrophie musculaire</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Muscular dystrophy</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Distrofia muscular</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Congénital</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Congenital</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Congénito</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Déficit</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Deficiency</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Déficiencia</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Laminine</s0>
<s5>05</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Laminin</s0>
<s5>05</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Laminina</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Chaîne peptidique α</s0>
<s5>06</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Alpha-Peptide chain</s0>
<s5>06</s5>
<s6>«Alpha-»Peptide chain</s6>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Cadena peptídica α</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Mutation</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Mutation</s0>
<s5>07</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Mutación</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Gène</s0>
<s5>08</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Gene</s0>
<s5>08</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Gen</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Immunohistochimie</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Immunohistochemistry</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Inmunohistoquímica</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>13</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>13</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>13</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Etude cas</s0>
<s5>17</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Case study</s0>
<s5>17</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Estudio caso</s0>
<s5>17</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Déterminisme génétique</s0>
<s5>18</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Genetic determinism</s0>
<s5>18</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Determinismo genético</s0>
<s5>18</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Enfant</s0>
<s5>20</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Child</s0>
<s5>20</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Niño</s0>
<s5>20</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>Mâle</s0>
<s5>21</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG"><s0>Male</s0>
<s5>21</s5>
</fC03>
<fC03 i1="13" i2="X" l="SPA"><s0>Macho</s0>
<s5>21</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Human</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Neuromusculaire pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Neuromuscular diseases</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Neuromuscular patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Maladie congénitale</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Congenital disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad congénita</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Anatomopathologie</s0>
<s5>61</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Pathology</s0>
<s5>61</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Anatomía patológica</s0>
<s5>61</s5>
</fC07>
<fN21><s1>028</s1>
</fN21>
</pA>
</standard>
<server><NO>PASCAL 02-0063926 INIST</NO>
<ET>Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study</ET>
<AU>HE (Y.); JONES (K. J.); VIGNIER (N.); MORGAN (G.); CHEVALLAY (M.); BAROIS (A.); ESTOURNET-MATHIAUD (B.); HORI (H.); MIZUTA (T.); TOME (F. M. S.); NORTH (K. N.); GUICHENEY (P.)</AU>
<AF>INSERM U523, Institut de Myologie, and IFR 14 "Coeur, Muscle et Vaisseaux", Groupe Hospitalier Pitié-Salpêtrière/Paris/France (1 aut., 3 aut., 5 aut., 10 aut., 12 aut.); Institute for Neuromuscular Research, The Children's Hospital at Westmead/Sydney/Australie (2 aut., 11 aut.); Department of Paediatrics and Child Health, University of Sydney/Australie (2 aut., 11 aut.); Sydney Children's Hospital/Randwick/Australie (4 aut.); Service de Pédiatrie-Réanimation Infantile, Hôpital Raymond-Poincaré/Garches/France (6 aut., 7 aut.); Medical Research Institute, Medical and Dental University/Tokyo/Japon (8 aut.); Department of Internal Medicine, Saga Medical School/Nabeshima/Japon (9 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2001; Vol. 57; No. 7; Pp. 1319-1322; Bibl. 10 ref.</SO>
<LA>Anglais</LA>
<EA>Article abstract-The authors report a case of congenital muscular dystrophy with mild nonprogressive muscle weakness, white matter hypodensity, and absence of the laminin a2 chain in muscle fibers with two antibodies, but not with four others. They identified mutations in LAMA2, which explain the partial laminin a2 deficiency. Analysis of this case and two others allows us to refine the epitopes of two of the commercial antibodies, and illustrate the importance of using antibodies directed against different domains of the protein.</EA>
<CC>002B17H</CC>
<FD>Dystrophie musculaire; Congénital; Déficit; Laminine; Chaîne peptidique α; Mutation; Gène; Immunohistochimie; Phénotype; Etude cas; Déterminisme génétique; Enfant; Mâle</FD>
<FG>Homme; Système nerveux pathologie; Neuromusculaire pathologie; Maladie héréditaire; Maladie congénitale; Anatomopathologie</FG>
<ED>Muscular dystrophy; Congenital; Deficiency; Laminin; Alpha-Peptide chain; Mutation; Gene; Immunohistochemistry; Phenotype; Case study; Genetic determinism; Child; Male</ED>
<EG>Human; Nervous system diseases; Neuromuscular diseases; Genetic disease; Congenital disease; Pathology</EG>
<SD>Distrofia muscular; Congénito; Déficiencia; Laminina; Cadena peptídica α; Mutación; Gen; Inmunohistoquímica; Fenotipo; Estudio caso; Determinismo genético; Niño; Macho</SD>
<LO>INIST-6345.354000099229650290</LO>
<ID>02-0063926</ID>
</server>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PascalFrancis/Corpus

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005A23 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Corpus/biblio.hfd -nk 005A23 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    PascalFrancis
   |étape=   Corpus
   |type=    RBID
   |clé=     Pascal:02-0063926
   |texte=   Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study
}}

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur les relations entre la France et l'Australie

Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study

Congenital muscular dystrophy with primary partial laminin α2 chain deficiency : Molecular study

Source :

Descripteurs français

English descriptors

Abstract

Notice en format standard (ISO 2709)

Format Inist (serveur)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri