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)....

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Detalles Bibliográficos
Autores principales: Fan, Luoming, Miura, Shiroh, Shimojo, Tomofumi, Sugino, Hirotoshi, Fujioka, Ryuta, Shibata, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
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

Internet

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

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