Literature DB >> 24451198

Dilated cardiomyopathy due to a phospholamban duplication.

Teresa M Lee1, Linda J Addonizio1, Wendy K Chung2.   

Abstract

Dilated cardiomyopathy is characterised by dilation and impaired systolic function. We present the case of a child with dilated cardiomyopathy caused by a 624 kb duplication of 6q22.31, which includes the phospholamban gene. The patient also has failure to thrive and developmental delay due to complex cytogenetic abnormalities including a 5p15 deletion associated with Cri du Chat and an 11p15 duplication associated with Russell-Silver syndrome.

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Year:  2014        PMID： 24451198     DOI： 10.1017/S1047951113002035

Source DB:  PubMed          Journal:  Cardiol Young        ISSN： 1047-9511            Impact factor:   1.093


  2 in total

1.  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.

Authors:  Grażyna T Truszkowska; Zofia T Bilińska; Joanna Kosińska; Justyna Śleszycka; Małgorzata Rydzanicz; Małgorzata Sobieszczańska-Małek; Maria Franaszczyk; Maria Bilińska; Piotr Stawiński; Ewa Michalak; Łukasz A Małek; Przemysław Chmielewski; Bogna Foss-Nieradko; Marcin M Machnicki; Tomasz Stokłosa; Joanna Ponińska; Łukasz Szumowski; Jacek Grzybowski; Jerzy Piwoński; Wojciech Drygas; Tomasz Zieliński; Rafał Płoski
Journal:  BMC Med Genet       Date:  2015-04-03       Impact factor: 2.103

2.  Prenatal diagnosis: the clinical usefulness of array comparative genomic hybridization.

Authors:  Marta Freitas; Joel Pinto; Carla Ramalho; Sofia Dória
Journal:  Porto Biomed J       Date:  2018-07-03
  2 in total

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