Abstract：
Nemaline Myopathy (NM) is a rare genetic disorder that affects muscle function and is characterized by the presence of nemaline rods in muscle fibers. These rods are abnormal structures that interfere with muscle contraction and can cause muscle weakness, respiratory distress, and other complications. NM is caused by variants in several genes, including TNNT1, which encodes the protein troponin T1. NM is inherited in an autosomal recessive pattern. The prevalence of heterozygous TNNT1 variants has been reported to be 1/152,000, indicating that the disease is relatively rare.
Investigation of TNNT1 gene variants that may cause cretin kinase elevation.
Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and family segregation was done by Sanger sequencing.
In this study, we report a 5-year-old girl with a novel variant recessive congenital TNNT1 myopathy. The patient had a novel homozygous (c.271_273del) deletion in the TNNT1 gene that is associated with creatine kinase elevation, which is a marker of muscle damage.
This case expands the phenotypic spectrum of TNNT1 myopathy and highlights the importance of genetic testing and counseling for families affected by this rare disorder. In this study provides valuable insights into the genetic basis of NM and highlights the importance of early diagnosis and management for patients with this rare disorder. Further research is needed to better understand the pathophysiology of TNNT1 myopathy and to develop effective treatments for this debilitating condition.
Investigation of TNNT1 gene variants that may cause cretin kinase elevation.
Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and family segregation was done by Sanger sequencing.
In this study, we report a 5-year-old girl with a novel variant recessive congenital TNNT1 myopathy. The patient had a novel homozygous (c.271_273del) deletion in the TNNT1 gene that is associated with creatine kinase elevation, which is a marker of muscle damage.
This case expands the phenotypic spectrum of TNNT1 myopathy and highlights the importance of genetic testing and counseling for families affected by this rare disorder. In this study provides valuable insights into the genetic basis of NM and highlights the importance of early diagnosis and management for patients with this rare disorder. Further research is needed to better understand the pathophysiology of TNNT1 myopathy and to develop effective treatments for this debilitating condition.
摘要：
背景：神经肌病（NM）是一种罕见的遗传性疾病，会影响肌肉功能，其特征是肌纤维中存在线虫棒。这些杆是异常结构，干扰肌肉收缩，并可导致肌肉无力，呼吸窘迫,和其他并发症。NM是由几个基因的变异引起的，包括编码蛋白质肌钙蛋白T1的TNNT1。NM以常染色体隐性模式遗传。据报道，杂合TNNT1变体的患病率为1/152,000，表明该疾病相对罕见。
目的：研究可能导致克雷汀激酶升高的TNNT1基因变异。
方法：记录详细的家族史和临床资料。进行全外显子组测序,并通过Sanger测序进行家族分离。
结果：在这项研究中，我们报告了一名5岁女孩患有一种新型的隐性先天性TNNT1肌病。该患者在与肌酸激酶升高相关的TNNT1基因中有一个新的纯合（c.271_273del）缺失，这是肌肉损伤的标志。
结论：该病例扩大了TNNT1肌病的表型范围，并强调了基因检测和咨询对这种罕见疾病影响的家庭的重要性。在这项研究中，对NM的遗传基础提供了有价值的见解，并强调了对这种罕见疾病患者进行早期诊断和管理的重要性。需要进一步的研究来更好地了解TNNT1肌病的病理生理学，并为这种衰弱状况开发有效的治疗方法。
目的：研究可能导致克雷汀激酶升高的TNNT1基因变异。
方法：记录详细的家族史和临床资料。进行全外显子组测序,并通过Sanger测序进行家族分离。
结果：在这项研究中，我们报告了一名5岁女孩患有一种新型的隐性先天性TNNT1肌病。该患者在与肌酸激酶升高相关的TNNT1基因中有一个新的纯合（c.271_273del）缺失，这是肌肉损伤的标志。
结论：该病例扩大了TNNT1肌病的表型范围，并强调了基因检测和咨询对这种罕见疾病影响的家庭的重要性。在这项研究中，对NM的遗传基础提供了有价值的见解，并强调了对这种罕见疾病患者进行早期诊断和管理的重要性。需要进一步的研究来更好地了解TNNT1肌病的病理生理学，并为这种衰弱状况开发有效的治疗方法。
