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Updated: Jan 15, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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蒂病的临床和遗传谱:土耳其儿科病例系列

Gülen Gul Mert1, Cansu Miçooğulları1, Ahmet Keçebaş1

  • 1Department of Pediatrics, Division of Pediatric Neurology, Cukurova University, Adana 01330, Turkey.

Neuro endocrinology letters
|October 9, 2025
PubMed
概括

这项研究确定了儿科小头病患者的新型TTN基因突变,揭示了肌肉软弱和器官参与的显著变异性. 这些发现突显了TTN相关肌肉病变的遗传异质性.

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
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