Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a des mutation

European Journal of Human Genetics

Volumn 20, Issue 9, 2012, Pages 984-985

  Hedberg, Carola ^a   Melberg, Atle ^b   Kuhl, Angelika ^c,d   Jenne, Dieter ^c   Oldfors, Anders ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^c MAX PLANCK INSTITUTE OF NEUROBIOLOGY   (Germany)

^d ROCHE DIAGNOSTICS GMBH   (Germany)

Author keywords

arrhythmogenic right ventricular cardiomyopathy 7; DES mutation; desmin; exome sequencing; myofibrillar myopathy

Indexed keywords

DESMIN; PROLINE; SERINE;

ARTICLE; AUTOSOMAL DOMINANT MYOFIBRILLAR MYOPATHY; CHROMOSOME 10Q; CHROMOSOME 2Q; DESMIN GENE; DNA SEQUENCE; EXOME; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HUMAN TISSUE; MALE; MUSCLE DISEASE; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CHROMOSOMES, HUMAN, PAIR 2; DESMIN; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXOME; FEMALE; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTERMEDIATE FILAMENTS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES; PEDIGREE; POINT MUTATION; SWEDEN;

EID: 84865210197     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.39     Document Type: Article

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