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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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Korean Child Neurology Society
2022-07-01
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| Серія: | Annals of Child Neurology |
| Предмети: | |
| Онлайн доступ: | http://www.annchildneurol.org/upload/pdf/acn-2022-00136.pdf |
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