Browsing Biology by Author "Henderson, M"
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf, A; Cox, D; Zaharieva, IT; Di Leo, V; Sarparanta, J; Jonson, PH; Sealy, IM; Smolnikov, A; White, RJ; Vihola, A (Springer Nature, 2024-03-01)In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that ...