%0 Case Reports
%T A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia.
%A Ikawa Y
%A Nakamura T
%A Fujino N
%A Uchiyama T
%A Ishiguro A
%A Takenaka M
%A Sakai Y
%A Noguchi K
%A Fujiki T
%A Wada T
%J Clin Case Rep
%V 12
%N 2
%D 2024 Feb
%M 38314191
暂无%R 10.1002/ccr3.8304
%X <B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.