...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Neuromuscular disorders: NMD >Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.
【24h】

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

机译：在94例先天性肌病患者中，携带TPM2和TPM3基因突变的患者的频率和表型。

获取原文
获取原文并翻译 | 示例
   

获取外文期刊封面封底 >>

       
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Congenital myopathies are difficult to classify correctly through molecular testing due to the size and heterogeneity of the genes involved. Therefore, the prevalence of the various genetic causes of congenital myopathies is largely unknown. In our cohort of 94 patients with congenital myopathy, two related female patients and two sporadic, male patients were found to carry mutations in the tropomyosin 2 (TPM2) and tropomyosin 3 (TPM3) genes, respectively. This indicates a low (4.3%) frequency of TPM2 and TPM3 mutations as a cause of congenital myopathy. Compared to previously described patients carrying the same mutations as found in our study (c.503G>A, and c.502C>T in TPM3, and c.415_417delGAG in TPM2), clinical presentation and muscle morphological findings differed in our patients. Differences included variation in distribution of muscle weakness, presence of scoliosis and ptosis, physical performance and joint contractures. The variation in clinical profiles emphasizes the phenotypic heterogeneity. However, common features were also present, such as onset of symptoms in infancy or childhood, musculoskeletal deformities and normal or low plasma levels of creatine kinase. One patient had nemaline myopathy and fiber size disproportion, while three patients had congenital fiber type disproportion (CFTD) on muscle biopsies. TPM2-related CFTD has only been described in two cases, indicating that mutations in TPM2 are rare causes of CFTD.
机译：由于涉及基因的大小和异质性，先天性肌病很难通过分子测试正确分类。因此，先天性肌病的各种遗传原因的流行在很大程度上是未知的。在我们的94名先天性肌病患者队列中，发现两名相关的女性患者和两名零星的男性患者分别携带原肌球蛋白2（TPM2）和原肌球蛋白3（TPM3）基因突变。这表明TPM2和TPM3突变的频率较低（4.3％），是先天性肌病的原因。与先前描述的携带与我们的研究相同的突变的患者（TPM3中的c.503G> A和c.502C> T，TPM2中的c.415_417delGAG）相比，我们的患者的临床表现和肌肉形态学发现有所不同。差异包括肌肉无力的分布变化，脊柱侧凸和下垂的存在，身体机能和关节挛缩。临床特征的变化强调了表型异质性。但是，也存在一些共同的特征，例如婴儿期或儿童期的症状发作，肌肉骨骼畸形以及血浆肌酸激酶水平正常或较低。一名患者患有肾性肌病和纤维大小不均，而三名患者在肌肉活检中患有先天性纤维类型不均（CFTD）。仅在两种情况下描述了TPM2相关的CFTD，这表明TPM2中的突变是CFTD的罕见原因。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号