Article
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Human molecular genetics - 20 Nov 2024
Gohlke Jochen, Lindqvist Johan, Hourani Zaynab, Heintzman Sarah, Tonino Paola, Elsheikh Bakri, Morales Ana, Vatta Matteo, Burghes Arthur, Granzier Henk, Roggenbuck Jennifer
Abstract excerpt
Pathogenic variants in the titin gene (TTN) are known to cause a wide range of cardiac and musculoskeletal disorders, with skeletal myopathy mostly attributed to biallelic variants. We identified monoallelic truncating variants (TTNtv), splice site or internal deletions in TTN in probands with mild, progressive axial and proximal weakness, with dilated cardiomyopathy frequently developing with age. These variants...
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