A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia
Abstract 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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2022-01-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-022-00182-0 |