Browsing Biology by Author "Wali, N"
Now showing items 1-2 of 2
-
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 ... -
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation
Schoenmakers, E; Marelli, F; Jørgensen, HF; Visser, WE; Moran, C; Groeneweg, S; Avalos, C; Jurgens, SJ; Figg, N; Finigan, A<jats:title>Abstract</jats:title><jats:p>Aortic aneurysms, which may dissect or rupture acutely and be lethal, can be a part of multisystem disorders that have a heritable basis. We report four patients with deficiency of ...