The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I

被引：23

作者：

Brockington, M

Blake, DJ

Torelli, S

Brown, SC

Muntoni, F

机构：

[1] Imperial Coll Fac Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London W12 0NN, England

[2] Univ Oxford, Dept Human Anat & Genet, Oxford, England

来源：

NEUROMUSCULAR DISORDERS | 2002年 / 12卷 / 03期

关键词：

D O I：

10.1016/S0960-8966(01)00325-X

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：233 / 234

页数：2

共 10 条

[1] The fukutin protein family - predicted enzymes modifying cell-surface molecules [J].

Aravind, L ;

Koonin, EV .

CURRENT BIOLOGY, 1999, 9 (22) :R836-R837

[2] 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

[3]

BROCKINGTON M, 2001, IN PRESS HUM MOL GEN

[4] Abnormal merosin in adults - A new form of late onset muscular dystrophy not linked to chromosome 6q2 [J].

Bushby, K ;

Anderson, LVB ;

Pollitt, C ;

Naom, I ;

Muntoni, F ;

Bindoff, L .

BRAIN, 1998, 121 :581-588

[5] A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3 [J].

Driss, A ;

Amouri, R ;

Ben Hamida, C ;

Souilem, S ;

Gouider-Khouja, N ;

Ben Hamida, M ;

Hentati, F .

NEUROMUSCULAR DISORDERS, 2000, 10 (4-5) :240-246

[6] 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

[7] 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

[8] MUTATIONS IN THE LAMININ ALPHA-2-CHAIN GENE (LAMA2) CAUSE MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY [J].

HELBLINGLECLERC, A ;

ZHANG, X ;

TOPALOGLU, H ;

CRUAUD, C ;

TESSON, F ;

WEISSENBACH, J ;

TOME, FMS ;

SCHWARTZ, K ;

FARDEAU, M ;

TRYGGVASON, K ;

GUICHENEY, P .

NATURE GENETICS, 1995, 11 (02) :216-218

[9]

KOBAYASHI K, 2001, 51 ANN M AM SOC HUM

[10] Laminin α2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy [J].

Naom, I ;

D'Alessandro, M ;

Sewry, CA ;

Philpot, J ;

Manzur, AY ;

Dubowitz, V ;

Muntoni, F .

NEUROMUSCULAR DISORDERS, 1998, 8 (07) :495-501

← 1 →