PDF(Pubmed)
Abstract：
BACKGROUND: Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia.
METHODS: We report the clinical presentations of two individuals with Myotonia Congenita (MC).
RESULTS: Patient 1 has been diagnosed with the recessive form of MC, known as the Becker variant, and Patient 2 has been diagnosed with the dominant form of MC, known as the Thomsen variant. In both patients, the diagnosis was made based on the clinical presentation, EMG and CLCN1 gene sequencing. Patient 1 also had a muscle biopsy.
CONCLUSIONS: Genetic testing in both patients reveals previously unidentified mutations in the CLCN1 gene specific to Myotonia Congenita. We report the salient clinical features of each patient and discuss the effects and common types of CLCN1 mutations and review the literature.
METHODS: We report the clinical presentations of two individuals with Myotonia Congenita (MC).
RESULTS: Patient 1 has been diagnosed with the recessive form of MC, known as the Becker variant, and Patient 2 has been diagnosed with the dominant form of MC, known as the Thomsen variant. In both patients, the diagnosis was made based on the clinical presentation, EMG and CLCN1 gene sequencing. Patient 1 also had a muscle biopsy.
CONCLUSIONS: Genetic testing in both patients reveals previously unidentified mutations in the CLCN1 gene specific to Myotonia Congenita. We report the salient clinical features of each patient and discuss the effects and common types of CLCN1 mutations and review the literature.
摘要：
背景：先天性肌强直是一种遗传性肌强直，是由于骨骼肌氯化物通道CLCN1中的突变。这些突变导致肌膜氯离子传导降低，导致延迟的肌肉松弛，这是明显的临床和电肌强直。
方法：我们报告了两名先天性肌强直症（MC）患者的临床表现。
结果：患者1被诊断为隐性MC，被称为贝克尔变体，患者2已被诊断为主要形式的MC，被称为汤姆森变体。在这两个病人中，根据临床表现做出诊断，EMG和CLCN1基因测序。患者1还进行了肌肉活检。
结论：两名患者的基因检测均显示出先前未发现的先天性肌强直的CLCN1基因突变。我们报告了每个患者的显着临床特征，讨论了CLCN1突变的影响和常见类型，并回顾了文献。
方法：我们报告了两名先天性肌强直症（MC）患者的临床表现。
结果：患者1被诊断为隐性MC，被称为贝克尔变体，患者2已被诊断为主要形式的MC，被称为汤姆森变体。在这两个病人中，根据临床表现做出诊断，EMG和CLCN1基因测序。患者1还进行了肌肉活检。
结论：两名患者的基因检测均显示出先前未发现的先天性肌强直的CLCN1基因突变。我们报告了每个患者的显着临床特征，讨论了CLCN1突变的影响和常见类型，并回顾了文献。
