|
KMID : 1035220210130010001
|
|
Korean Journal of Neuromuscular Disorders
2021 Volume.13 No. 1 p.1 ~ p.3
|
|
|
Practical Diagnostic Approach to Myopathy
|
|
Lee Jong-Mok
|
|
|
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 The efficiency of a genetic diagnosis has been archived with wide application of next-generation sequencing (NGS) recently.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.
|
|
|
KEYWORD
|
|
|
Whole exome sequencing, Multiplex polymerase chain reaction, Blotting, southern, Sequence analysis
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|