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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...

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Principais autores: Seungbok Lee, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Anna Cho
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Child Neurology Society 2022-07-01
coleção:Annals of Child Neurology
Assuntos:
muscular dystrophy, limb-girdle, type 1c
caveolin 3
high-throughput nucleotide sequencing
muscular dystrophies, limb-girdle
creatine kinase
Acesso em linha:http://www.annchildneurol.org/upload/pdf/acn-2022-00136.pdf
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