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.

doi:10.1186/s12881-015-0167-0

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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 - 3 Apr 2015

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

Abstract excerpt

BACKGROUND: In humans mutations in the PLN gene, encoding phospholamban - a regulator of sarcoplasmic reticulum calcium ATPase (SERCA), cause cardiomyopathy with prevalence depending on the population. Our purpose was to identify PLN mutations in Polish cardiomyopathy patients. METHODS: We studied 161 unrelated subjects referred for genetic testing for cardiomyopathies: 135 with dilated cardiomyopathy, 22 with...

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PMID: 25928149
DOI: 10.1186/s12881-015-0167-0
PMCID: PMC4421997

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