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US 2024/0402190 A1Published application
Diagnostic biomarkers for limb-girdle muscular dystrophy type 2h and use thereof
AssigneeThe Catholic University of Korea Industry-Academic Cooperation Foundation
InventorsEun Hui LEE, Jun Hee CHOI
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Abstract
The present invention relates to a composition for diagnosing limb-girdle muscular dystrophy type 2H, a method of providing information for diagnosis, and a method of screening a drug for the treatment of limb-girdle muscular dystrophy type 2H.
Claims5
A method of providing information for the diagnosis of limb-girdle muscular dystrophy type 2H, comprising:
- measuring the expression level of the mRNA or protein of one or more genes selected from the group consisting of Orai1, TRPC3, and TRPC6 in a biological sample isolated from a subject.
A method of screening a drug for the treatment of limb-girdle muscular dystrophy type 2H, comprising:
- treating a biological sample, which is isolated from a subject suspected of having limb-girdle muscular dystrophy type 2H, with a candidate material, and judging whether the candidate material increases or decreases the expression of the mRNA or protein of one or more genes selected from the group consisting of Orai1, TRPC3, and TRPC6 in skeletal muscle cells.
Dependencies are inferred from the claim text.