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A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia
Asymptomatic hyper-CK-emia (ASCK) is characterized by persistent elevation of creatine kinase (CK) in serum without any neurological symptoms. We ascertained a two-generation family of ASCK patients without clear neurological abnormalities except for the high levels of serum CK (810.5 ± 522.4 U/L)....
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8791931/ https://www.ncbi.nlm.nih.gov/pubmed/35082294 http://dx.doi.org/10.1038/s41439-022-00182-0 |