Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome -: art. no. e61

被引：195

作者：

de Bernabé, DBV

Voit, T

Longman, C

Steinbrecher, A

Straub, V

Yuva, Y

Herrmann, R

Sperner, J

Korenke, C

Diesen, C

Dobyns, WB

Brunner, HG

van Bokhoven, H

Brockington, M

Muntoni, F

机构：

[1] Univ Med Ctr Nijmegen, Dept Human Genet, Nijmegen, Netherlands

[2] Univ Hosp Essen, Dept Pediat & Pediat Neurol, Essen, Germany

[3] Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London SW7 2AZ, England

[4] Univ Hosp Lubeck, Dept Pediat, Lubeck, Germany

[5] Staedt Kliniken Oldenburg, Dept Pediat Neurol, Oldenburg, Germany

[6] Folkhalsan Inst Genet, Helsinki, Finland

[7] Haartman Inst, Dept Med Genet, Helsinki, Finland

[8] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[9] Univ Chicago, Dept Neurol, Chicago, IL 60637 USA

[10] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 05期

关键词：

D O I：

10.1136/jmg.2003.013870

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：5

共 34 条

[1] Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome [J].

Beltran-Valero de Bernabé, D ;

Currier, S ;

Steinbrecher, A ;

Celli, J ;

van Beusekom, E ;

van der Zwaag, B ;

Kayserili, H ;

Merlini, L ;

Chitayat, D ;

Dobyns, WB ;

Cormand, B ;

Lehesjoki, AE ;

Cruces, J ;

Voit, T ;

Walsh, CA ;

van Bokhoven, H ;

Brunner, HG .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (05) :1033-1043

[2] Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C [J].

Brockington, M ;

Yuva, Y ;

Prandini, P ;

Brown, SC ;

Torelli, S ;

Benson, MA ;

Herrmann, R ;

Anderson, LVB ;

Bashir, R ;

Burgunder, JM ;

Fallet, S ;

Romero, N ;

Fardeau, M ;

Straub, V ;

Storey, G ;

Pollitt, C ;

Richard, I ;

Sewry, CA ;

Bushby, K ;

Voit, T ;

Blake, DJ ;

Muntoni, F .

HUMAN MOLECULAR GENETICS, 2001, 10 (25) :2851-2859

[3] Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan [J].

Brockington, M ;

Blake, DJ ;

Prandini, P ;

Brown, SC ;

Torelli, S ;

Benson, MA ;

Ponting, CP ;

Estournet, B ;

Romero, NB ;

Mercuri, E ;

Voit, T ;

Sewry, CA ;

Guicheney, P ;

Muntoni, F .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1198-1209

[4] Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease [J].

Cormand, B ;

Pihko, H ;

Bayés, M ;

Valanne, L ;

Santavuori, P ;

Talim, B ;

Gershoni-Baruch, R ;

Ahmad, A ;

van Bokhoven, H ;

Brunner, HG ;

Voit, T ;

Topaloglu, H ;

Dobyns, WB ;

Lehesjoki, AE .

NEUROLOGY, 2001, 56 (08) :1059-1069

[5]

de Bernabé DBV, 2003, J MED GENET, V40, P845

[6] LISSENCEPHALY AND OTHER MALFORMATIONS OF CORTICAL DEVELOPMENT - 1995 UPDATE [J].

DOBYNS, WB ;

TRUWIT, CL .

NEUROPEDIATRICS, 1995, 26 (03) :132-147

[7] MEMBRANE ORGANIZATION OF THE DYSTROPHIN-GLYCOPROTEIN COMPLEX [J].

ERVASTI, JM ;

CAMPBELL, KP .

CELL, 1991, 66 (06) :1121-1131

[8] Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse [J].

Grewal, PK ;

Holzfeind, PJ ;

Bittner, RE ;

Hewitt, JE .

NATURE GENETICS, 2001, 28 (02) :151-154

[9] Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy [J].

Hayashi, YK ;

Ogawa, M ;

Tagawa, K ;

Noguchi, S ;

Ishihara, T ;

Nonaka, I ;

Arahata, K .

NEUROLOGY, 2001, 57 (01) :115-121

[10] Dystroglycan inside and out [J].

Henry, MD ;

Campbell, KP .

CURRENT OPINION IN CELL BIOLOGY, 1999, 11 (05) :602-607

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