Practical Diagnostic Approach to Myopathy / 대한신경근육질환학회지
Korean Journal of Neuromuscular Disorders
;
(2): 1-3, 2021.
Article
in Korean
| WPRIM
| ID: wpr-902283
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 The efficiency of a genetic diagnosis has been archived with wide application of next-generation sequencing (NGS) recently.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:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Korean
Journal:
Korean Journal of Neuromuscular Disorders
Year:
2021
Type:
Article
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