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Article

Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis

30 Oct 2023

Abstract excerpt

Obscurin, encoded by the OBSCN gene, is a muscle protein consisting of three main splice isoforms, obscurin-A, obscurin-B, and obscurin kinase-only protein (also known as KIAA1639 or Obsc-kin). Obscurin is located at the M-band and Z-disks and interacts with titin and myomesin. It plays an important role in the stability and maintenance of the A- and M-bands and the subsarcolemmal organization of the microtubule...

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Identifiers

PMID: 38159459
DOI: 10.1016/j.nmd.2023.10.013

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