A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia

Autor:	Yasuhiro Ikawa, Taichi Nakamura, Noboru Fujino, Toru Uchiyama, Akira Ishiguro, Mika Takenaka, Yuta Sakai, Kazuhiro Noguchi, Toshihiro Fujiki, Taizo Wada
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	cardiomyopathy macrothrombocytopenia MYH7 MYH9 Medicine Medicine (General) R5-920
Zdroj:	Clinical Case Reports, Vol 12, Iss 2, Pp n/a-n/a (2024)
Druh dokumentu:	article
ISSN:	2050-0904
DOI:	10.1002/ccr3.8304
Popis:	Key Clinical Message. A 15‐year‐old girl developed inherited cardiomyopathy and macrothrombocytopenia revealing pathogenic variants of both MYH7 and MYH9 genes. This underlies the importance of repeated genetic testing in diagnosing and managing inherited disorders. Abstract The MYH7 and MYH9 genes encode for distinct myosin heavy chain proteins. Our case features a 15‐year‐old girl, presenting with inherited cardiomyopathy and macrothrombocytopenia, revealing distinct pathogenic variants of both MYH7 and MYH9 genes. This underlines the relevance of genetic testing and personalized medicine in diagnosing and managing inherited disorders.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/78fb3686179c4d188c65dfb64d92030f Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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