Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea

• Main Authors: Seungbok Lee (Author), Soo Yeon Kim (Author), Byung Chan Lim (Author), Ki Joong Kim (Author), Jong Hee Chae (Author), Anna Cho (Author)
• Formato: Livro
• Publicado em: Korean Child Neurology Society, 2022-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...