A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia
Yasuhiro Ikawa,
Taichi Nakamura,
Noboru Fujino
et al.
Abstract: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.AbstractThe 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 ge… Show more
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