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A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy

Primary triglyceride deposit cardiomyovasculopathy (P-TGCV), caused by a rare genetic mutation in PNPLA2 encoding adipose triglyceride lipase (ATGL), exhibits severe cardiomyocyte steatosis and heart failure. Here, we report the case of a 51-year-old man with P-TGCV homozygous for a novel PNPLA2 mut...

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Detalles Bibliográficos
Autores principales:	Hara, Yasuhiro, Ikeda, Yoshihiko, Kimura, Hayato, Shimamoto, Shinsaku, Ishikawa, Mao, Kobayashi, Kunihisa, Nagasaka, Hironori, Shimoyama, Hisashi, Hirano, Ken-ichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9945797/ https://www.ncbi.nlm.nih.gov/pubmed/36846631 http://dx.doi.org/10.1016/j.ymgmr.2023.100960

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