A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages 1-9

  Truszkowska, Grazyna T ^a   Bilińska, Zofia T ^a   Kosińska, Joanna ^b   Śleszycka, Justyna ^a   Rydzanicz, Małgorzata ^b   Sobieszczańska Małek, Małgorzata ^a   Franaszczyk, Maria ^a   Bilińska, Maria ^a   Stawiński, Piotr ^c   Michalak, Ewa ^a   Małek, Łukasz A ^a   Chmielewski, Przemysław ^a   Foss Nieradko, Bogna ^a   Machnicki, Marcin M ^c   Stokłosa, Tomasz ^c   Ponińska, Joanna ^a   Szumowski, Łukasz ^a   Grzybowski, Jacek ^a   Piwoński, Jerzy ^a   Drygas, Wojciech ^a   Zieliński, Tomasz ^a   Płoski, Rafał ^b   more..

^a INSTITUTE OF CARDIOLOGY   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Dilated cardiomyopathy; Genetic testing; Hypertrophic cardiomyopathy; Mutation; Phospholamban; PLN

Indexed keywords

ARGININE; CALCIUM BINDING PROTEIN; CREATINE KINASE; LEUCINE; PHOSPHOLAMBAN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CARDIOMYOPATHIES; CARDIOMYOPATHY; CARDIOVASCULAR MAGNETIC RESONANCE; CASE CONTROL STUDY; CHEMISTRY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; COPY NUMBER VARIATION; ETHNICITY; ETIOLOGY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HEART EJECTION FRACTION; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HEART LEFT VENTRICLE MASS; HEART VENTRICLE REMODELING; HETEROZYGOTE; HOLTER MONITORING; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; NULL ALLELE; PENETRANCE; POLAND; POLISH CITIZEN; REAL TIME POLYMERASE CHAIN REACTION; WOLFF PARKINSON WHITE SYNDROME;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM-BINDING PROTEINS; CARDIOMYOPATHIES; CASE-CONTROL STUDIES; CHEMISTRY; ETIOLOGY; FEMALE; GENETICS; HETEROZYGOTE; HUMANS; MALE; METABOLISM; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PENETRANCE; POLAND;

EID: 84926623414     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0167-0     Document Type: Article

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