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一例伴有心肌病和大血小板减少症的 和 基因变异病例。 （这里原文中“and”前后应该有具体基因名称缺失）

A case of and genes variants with cardiomyopathy and macrothrombocytopenia.

作者信息

Ikawa Yasuhiro, Nakamura Taichi, Fujino Noboru, Uchiyama Toru, Ishiguro Akira, Takenaka Mika, Sakai Yuta, Noguchi Kazuhiro, Fujiki Toshihiro, Wada Taizo

机构信息

Department of Pediatrics, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan.

Department of Cardiovascular Medicine, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan.

出版信息

Clin Case Rep. 2024 Feb 1;12(2):e8304. doi: 10.1002/ccr3.8304. eCollection 2024 Feb.

DOI:10.1002/ccr3.8304
PMID:38314191
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10834379/
Abstract

KEY CLINICAL MESSAGE

A 15-year-old girl developed inherited cardiomyopathy and macrothrombocytopenia revealing pathogenic variants of both and genes. This underlies the importance of repeated genetic testing in diagnosing and managing inherited disorders.

ABSTRACT

The and 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 and genes. This underlines the relevance of genetic testing and personalized medicine in diagnosing and managing inherited disorders.

摘要

关键临床信息

一名15岁女孩患遗传性心肌病和大血小板减少症，发现了两个基因的致病变异。这凸显了重复基因检测在诊断和管理遗传性疾病中的重要性。

摘要

基因和基因编码不同的肌球蛋白重链蛋白。我们的病例为一名15岁女孩，患有遗传性心肌病和大血小板减少症，发现了基因和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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abb6/10834379/36ccd98cf538/CCR3-12-e8304-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abb6/10834379/e13073be0a02/CCR3-12-e8304-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abb6/10834379/36ccd98cf538/CCR3-12-e8304-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abb6/10834379/e13073be0a02/CCR3-12-e8304-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abb6/10834379/36ccd98cf538/CCR3-12-e8304-g003.jpg

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Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.MYH9基因的突变会导致May-Hegglin异常以及Fechtner和Sebastian综合征。May-Heggllin/Fechtner综合征研究联盟。
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