Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
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Töpf A, et al. Among authors: sarparanta j.
Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1.
Nat Genet. 2024.
PMID: 38429495
Free PMC article.