Korean J Neuromuscul Disord.
2021 Jun;13(1):1-3. 10.46518/kjnmd.2021.13.1.1.
Practical Diagnostic Approach to Myopathy
- Affiliations
-
- 1Department of Neurology, School of Medicine, Kyungpook National University, Daegu, Korea
- 2Department of Neurology, Kyungpook National University Hospital, Daegu, Korea
- KMID: 2518420
- DOI: http://doi.org/10.46518/kjnmd.2021.13.1.1
Abstract
- Hereditary myopathy is characterized by the weakness of skeletal muscles and is associated with various genetic defects. The efficiency of a genetic diagnosis has been archived with wide application of next-generation sequencing (NGS) recently. However, the establishment of the correct diagnosis of hereditary myopathy is still challenging and sometimes requires other methods of genetic analysis besides NGS. Therefore, clinicians still have crucial roles in analyzing the causative genes. In this article, we introduced the genetic analysis approach in the clinical field.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Statin-Naïve Paraneoplastic Anti-HMGCR Myopathy
- Effect of the Dysphagia Therapy Child with Nemaline Myopathy Who Have Dysphagia: A Single Subject Research Design
- Practical utility of the three-dimensional approach in orthognathic surgery
- Myotubular myopathy: A case report
- Myasthenia Gravis Occurring Simultaneously With Inflammatory Myopathy in Sjogren's Syndrome
