PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■一名15岁女孩发展为遗传性心肌病和巨大血小板减少症，揭示了MYH7和MYH9基因的致病变异。这是重复基因检测在诊断和管理遗传性疾病中的重要性的基础。
■MYH7和MYH9基因编码不同的肌球蛋白重链蛋白。我们的案子是一个15岁的女孩,表现为遗传性心肌病和大型血小板减少症，揭示了MYH7和MYH9基因的不同致病变异。这强调了基因检测和个性化医疗在诊断和管理遗传性疾病中的相关性。
■MYH7和MYH9基因编码不同的肌球蛋白重链蛋白。我们的案子是一个15岁的女孩,表现为遗传性心肌病和大型血小板减少症，揭示了MYH7和MYH9基因的不同致病变异。这强调了基因检测和个性化医疗在诊断和管理遗传性疾病中的相关性。
