Multiple Mutations in Genetic Cardiovascular Disease A Marker of Disease Severity?

被引：139

作者：

Kelly, Matthew ^{[1
,2
]}

Semsarian, Christopher ^{[1
,2
,3
]}

机构：

[1] Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW, Australia

[2] Univ Sydney, Fac Med, Sydney, NSW 2006, Australia

[3] Royal Prince Alfred Hosp, Dept Cardiol, Sydney, NSW, Australia

来源：

CIRCULATION-CARDIOVASCULAR GENETICS | 2009年 / 2卷 / 02期

基金：

英国医学研究理事会;

关键词：

cardiomyopathy; diagnosis; genetics; genetic heart disease; gene; cardiovascular; multiple mutation; disease severity; MYOSIN HEAVY-CHAIN; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; CARDIAC TROPONIN-T; LONG QT SYNDROME; MOUSE MODEL; DILATED CARDIOMYOPATHY; HEART-FAILURE; SUDDEN-DEATH; COMPOUND; PREVALENCE;

D O I：

10.1161/CIRCGENETICS.108.836478

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：182 / 190

页数：9

共 50 条

[1] Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations [J].

Alpert, NR ;

Mohiddin, SA ;

Tripodi, D ;

Jacobson-Hatzell, J ;

Vaughn-Whitley, K ;

Brosseau, C ;

Warshaw, DM ;

Fananapazir, L .

AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 2005, 288 (03) :H1097-H1102

[2] PROGNOSTIC IMPLICATIONS OF NOVEL BETA-CARDIAC MYOSIN HEAVY-CHAIN GENE-MUTATIONS THAT CAUSE FAMILIAL HYPERTROPHIC CARDIOMYOPATHY [J].

ANAN, R ;

GREVE, G ;

THIERFELDER, L ;

WATKINS, H ;

MCKENNA, WJ ;

SOLOMON, S ;

VECCHIO, C ;

SHONO, H ;

NAKAO, S ;

TANAKA, H ;

MARES, A ;

TOWBIN, JA ;

SPIRITO, P ;

ROBERTS, R ;

SEIDMAN, JG ;

SEIDMAN, CE .

JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (01) :280-285

[3] Glycogen storage diseases presenting as hypertrophic cardiomyopathy [J].

Arad, M ;

Maron, BJ ;

Gorham, JM ;

Johnson, WH ;

Saul, JP ;

Perez-Atayde, AR ;

Spirito, P ;

Wright, GB ;

Kanter, RJ ;

Seidman, CE ;

Seidman, JG .

NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (04) :362-372

[4] Coexistence of mitochondrial DNA and β myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure [J].

Arbustini, E ;

Fasani, R ;

Morbini, P ;

Diegoli, M ;

Grasso, M ;

Dal Bello, B ;

Marangoni, E ;

Banfi, P ;

Banchieri, N ;

Bellini, O ;

Comi, G ;

Narula, J ;

Campana, C ;

Gavazzi, A ;

Danesino, C ;

Viganó, M .

HEART, 1998, 80 (06) :548-558

[5] Mutations in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy:: evidence for the central role of energy compromise in disease pathogenesis [J].

Blair, E ;

Redwood, C ;

Ashrafian, H ;

Oliveira, M ;

Broxholme, J ;

Kerr, B ;

Salmon, A ;

Östman-Smith, I ;

Watkins, H .

HUMAN MOLECULAR GENETICS, 2001, 10 (11) :1215-1220

[6] A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS [J].

BROWN, MS ;

GOLDSTEIN, JL .

SCIENCE, 1986, 232 (4746) :34-47

[7] Demystifying the ACE polymorphism: From genetics to biology [J].

Castellon, Raquel ;

Hamdi, Hamdi K. .

CURRENT PHARMACEUTICAL DESIGN, 2007, 13 (12) :1191-1198

[8] Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene [J].

Deprez, R. H. Lekanne ;

Muurling-Vlietman, J. J. ;

Hruda, J. ;

Baars, M. J. H. ;

Wijnaendts, L. C. D. ;

Stolte-Dijkstra, I. ;

Alders, M. ;

van Hagen, J. M. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (10) :829-832

[9]

Doolan Alessandra, 2004, Heart Lung Circ, V13, P15, DOI 10.1016/j.hlc.2004.01.026

[10] Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy [J].

Erdmann, J ;

Daehmlow, S ;

Wischke, S ;

Senyuva, M ;

Werner, U ;

Raible, J ;

Tanis, N ;

Dyachenko, S ;

Hummel, M ;

Hetzer, R ;

Regitz-, V .

CLINICAL GENETICS, 2003, 64 (04) :339-349

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