Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

European Journal of Human Genetics

Volumn 21, Issue 10, 2013, Pages 1105-1111

  Roncarati, Roberta ^a,b   Viviani Anselmi, Chiara ^b   Krawitz, Peter ^c,d   Lattanzi, Giovanna ^e   Von Kodolitsch, Yskert ^f   Perrot, Andreas ^c,g   Di Pasquale, Elisa ^a,b   Papa, Laura ^b   Portararo, Paola ^b   Columbaro, Marta ^e   Forni, Alberto ^h   Faggian, Giuseppe ^h   Condorelli, Gianluigi ^a,i   Robinson, Peter N ^c,d  

^a Milan Unit   (Italy)

^b IRCCS   (Italy)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e CNR   (Italy)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^h UNIVERSITY OF VERONA   (Italy)

ⁱ HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

Author keywords

familial dilated cardiomyopathy; lamin A C; modifying variant; titin; whole exome sequencing

Indexed keywords

CONNECTIN; LAMIN A; LAMIN C;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; EXOME; EXON; EXTENDED FAMILY; FEMALE; GENETIC VARIABILITY; HEART TRANSPLANTATION; HEART VENTRICLE ARRHYTHMIA; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MISSENSE MUTATION; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; OXYGEN CONSUMPTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; CARDIOMYOPATHY, DILATED; CHILD; CONNECTIN; EXOME; FEMALE; HETEROZYGOTE; HUMANS; LAMIN TYPE A; MALE; MIDDLE AGED; MUTATION; PEDIGREE; SARCOMERES; SEQUENCE ANALYSIS, DNA;

EID: 84884587480     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.16     Document Type: Article

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