Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea
Purpose Caveolinopathy is a disease caused by caveolin-3 (CAV3) mutations that shows a wide clinical spectrum, including isolated hyperCKemia and limb-girdle muscular dystrophy. While recent advances in next-generation sequencing (NGS) have enabled earlier diagnosis of this disease, it remains diffi...
Saved in:
Main Authors: | , , , , , |
---|---|
Format: | Book |
Published: |
Korean Child Neurology Society,
2022-07-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
Call Number: |
A1234.567 |
---|---|
Copy 1 | Available |