Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death

Molecular Genetics and Metabolism

Volumn 102, Issue 2, 2011, Pages 200-206

  Chang, Bo ^a,f   Nishizawa, Tsutomu ^b   Furutani, Michiko ^b   Fujiki, Akira ^a   Tani, Masanao ^c   Kawaguchi, Makoto ^d   Ibuki, Keijiro ^c   Hirono, Keiichi ^a   Taneichi, Hiromichi ^a   Uese, Keiichiro ^a   Onuma, Yoshiko ^a   Bowles, Neil E ^e   Ichida, Fukiko ^a   Inoue, Hiroshi ^a   Matsuoka, Rumiko ^b   Miyawaki, Toshio ^a  

^a UNIVERSITY OF TOYAMA   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c Department of Internal Medicine   (Japan)

^d Japan Organization of Occupational Health and Safety   (Japan)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f DALIAN UNIVERSITY   (China)

Author keywords

Cardiomyopathy; Left ventricular noncompaction; Sarcomere protein gene; Sudden death; TPM1

Indexed keywords

ALPHA DYSTROBREVIN; ALPHA TROPOMYOSIN; AMINO ACID; BINDING PROTEIN; DNA; DYSTROBREVIN; ELASTIN; LAMIN A; LIM DOMAIN BINDING PROTEIN 3; MESSENGER RNA; SIMAZINE; UNCLASSIFIED DRUG;

ADIPOSE TISSUE; ADULT; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA EXTRACTION; DNA SEQUENCE; EXON; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; HEART MUSCLE FIBROSIS; HUMAN; HUMAN TISSUE; JAPANESE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SUDDEN DEATH; VENTRICULAR NONCOMPACTION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DEATH, SUDDEN, CARDIAC; DYSTROPHIN-ASSOCIATED PROTEINS; ELECTROCARDIOGRAPHY; FEMALE; GENOTYPE; HEART VENTRICLES; HUMANS; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; MIDDLE AGED; MUTATION; NEUROPEPTIDES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TROPOMYOSIN; YOUNG ADULT;

EID: 78651443586     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.09.009     Document Type: Article

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