Article

A zebrafish model of Bethlem myopathy reveals CaV1.1 as the missing link between collagen type VI deficiency and muscle dysfunction

2025-06-04

Abstract excerpt

Bethlem myopathy (BM) results from mutations in genes encoding one of the three α chains of collagen VI (ColVI). This muscle disease is characterized by skeletal muscle weakness and wasting worsening with age. How alteration in ColVI present outside muscle fibers in the extracellular matrix induces dysfunction within muscle fibers is still misunderstood. Here we explored intracellular Ca 2+ handling properties in...

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Literature Corpus work: 5bd4df15-e312-577f-a594-176291709f2a
DOI: 10.1101/2025.06.02.657388

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