A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emia

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...

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Bibliographic Details
Main Authors: Luoming Fan, Shiroh Miura, Tomofumi Shimojo, Hirotoshi Sugino, Ryuta Fujioka, Hiroki Shibata
Format: Article
Language:English
Published: Nature Publishing Group 2022-01-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-022-00182-0

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https://doi.org/10.1038/s41439-022-00182-0

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