Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Human Molecular Genetics

Volumn 23, Issue 4, 2014, Pages 980-991

  Chauveau, Claire ^a,b,c   Bonnemann, Carsten G ^d,e   Julien, Cedric ^a,b,p   Kho, Ay Lin ^f   Marks, Harold ^g   Talim, Beril ^h   Maury, Philippe ⁱ   Arne Bes, Marie Christine ⁱ   Uro Coste, Emmanuelle ⁱ   Alexandrovich, Alexander ^f   Vihola, Anna ^j   Schafer, Sebastian ^o   Kaufmann, Beth ^e   Medne, Livija ^e   Hübner, Norbert ^o   Foley, A Reghan ^e,q   Santi, Mariarita ^e   Udd, Bjarne ^j,k,l   Topaloglu, Haluk ^h   Moore, Steven A ^m   Gotthardt, Michael ^o   Samuels, Mark E ^c   Gautel, Mathias ^f   Ferreiro, Ana ^a,b,n,o   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g Clinical Research Center of New Jersey   (United States)

^h HACETTEPE UNIVERSITY   (Turkey)

ⁱ CHU RANGUEIL   (France)

^j UNIVERSITY OF HELSINKI   (Finland)

^k HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^l VAASA CENTRAL HOSPITAL   (Finland)

^m UNIVERSITY OF IOWA   (United States)

ⁿ RAYMOND POINCARÉ HOSPITAL   (France)

^o MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^p UNIVERSITY OF MONTREAL   (Canada)

^q UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN;

ARTHROGRYPOSIS; ARTICLE; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; CORE MYOPATHY; ECHOCARDIOGRAPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; EX VIVO STUDY; EXOME; GENE MUTATION; HEART DISEASE; HEART FAILURE; HEART SEPTUM DEFECT; HISTOPATHOLOGY; HUMAN; IMMUNOFLUORESCENCE; IN VITRO STUDY; KYPHOSIS; MORPHOGENESIS; MOTOR DEVELOPMENT; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SKELETAL MUSCLE; SUDDEN CARDIAC DEATH; TTN GENE; VENTRICULAR NONCOMPACTION; WESTERN BLOTTING;

ADOLESCENT; CODON, NONSENSE; CONNECTIN; CONSANGUINITY; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEART DISEASES; HETEROZYGOTE; HUMANS; MALE; MUSCLE, SKELETAL; MYOPATHY, CENTRAL CORE; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84892953505     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt494     Document Type: Article

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