Missense mutations of ACTA1 cause dominant congenital myopathy with cores

被引：80

作者：

Kaindl, AM

Rüschendorf, F

Krause, S

Goebel, HH

Koehler, K

Becker, C

Pongratz, D

Müller-Höcker, J

Nürnberg, P

Stoltenburg-Didinger, G

Lochmüller, H

Huebner, A

机构：

[1] Univ Med Sch, Charite, Dept Neuropediat, D-13353 Berlin, Germany

[2] Tech Univ Dresden, Childrens Hosp, D-8027 Dresden, Germany

[3] Univ Med Sch, Charite, Inst Med Genet, D-13353 Berlin, Germany

[4] Univ Med Sch, Charite, Inst Neuropathol, D-13353 Berlin, Germany

[5] Univ Munich, Friedrich Baur Inst, Dept Neurol, Munich, Germany

[6] Univ Munich, Gene Ctr, Munich, Germany

[7] Johannes Gutenberg Univ Mainz, Dept Neuropathol, D-6500 Mainz, Germany

[8] Max Delbruck Ctr Mol Med, Mol Genet & Gene Mapping Ctr, Berlin, Germany

[9] Univ Munich, Inst Pathol, D-8000 Munich, Germany

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 11期

关键词：

D O I：

10.1136/jmg.2004.020271

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：842 / 848

页数：7

共 36 条

[1] Merlin-rapid analysis of dense genetic maps using sparse gene flow trees [J].

Abecasis, GR ;

Cherny, SS ;

Cookson, WO ;

Cardon, LR .

NATURE GENETICS, 2002, 30 (01) :97-101

[2] GRR: graphical representation of relationship errors [J].

Abecasis, GR ;

Cherny, SS ;

Cookson, WOC ;

Cardon, LR .

BIOINFORMATICS, 2001, 17 (08) :742-743

[3] Cross-bridge binding to actin and force generation in skinned fibers of the rabbit psoas muscle in the presence of antibody fragments against the N-terminus of actin [J].

Brenner, B ;

Kraft, T ;

Dasgupta, G ;

Reisler, E .

BIOPHYSICAL JOURNAL, 1996, 70 (01) :48-56

[4] Congenital myopathies [J].

Bruno C. ;

Minetti C. .

Current Neurology and Neuroscience Reports, 2004, 4 (1) :68-73

[5]

COOK RK, 1993, J BIOL CHEM, V268, P2410

[6] Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene [J].

Davis, MR ;

Haan, E ;

Jungbluth, H ;

Sewry, C ;

North, K ;

Muntoni, F ;

Kuntzer, T ;

Lamont, P ;

Bankier, A ;

Tomlinson, P ;

Sánchez, A ;

Walsh, P ;

Nagarajan, L ;

Oley, C ;

Colley, A ;

Gedeon, A ;

Quinlivan, R ;

Dixon, J ;

James, D ;

Müller, CR ;

Laing, NG .

NEUROMUSCULAR DISORDERS, 2003, 13 (02) :151-157

[7]

De Cauwer Harald, 2002, Neuromuscul Disord, V12, P588, DOI 10.1016/S0960-8966(02)00002-0

[8] MISSENSE MUTATIONS IN THE BETA-MYOSIN HEAVY-CHAIN GENE CAUSE CENTRAL CORE DISEASE IN HYPERTROPHIC CARDIOMYOPATHY [J].

FANANAPAZIR, L ;

DALAKAS, MC ;

CYRAN, F ;

COHN, G ;

EPSTEIN, ND .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (09) :3993-3997

[9] A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene [J].

Ferreiro, A ;

Monnier, N ;

Romero, NB ;

Leroy, JP ;

Bönnemann, C ;

Haenggeli, CA ;

Straub, V ;

Voss, WD ;

Nivoche, Y ;

Jungbluth, H ;

Lemainque, A ;

Voit, T ;

Lunardi, J ;

Fardeau, M ;

Guicheney, P .

ANNALS OF NEUROLOGY, 2002, 51 (06) :750-759

[10] Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease:: Reassessing the nosology of early-onset myopathies [J].

Ferreiro, A ;

Quijano-Roy, S ;

Pichereau, C ;

Moghadaszadeh, B ;

Goemans, N ;

Bönnemann, C ;

Jungbluth, H ;

Straub, V ;

Villanova, M ;

Leroy, JP ;

Romero, NB ;

Martin, JJ ;

Muntoni, F ;

Voit, T ;

Estournet, B ;

Richard, P ;

Fardeau, M ;

Guicheney, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) :739-749

← 1 2 3 4 →