Congenital skeletal muscle myopathy due to the recently described digenic inheritance of TTN and SRPK3 genetic variants: a case study
Neuromuscul Disord. 2026 Mar 2:106390. doi: 10.1016/j.nmd.2026.106390. Online ahead of print.ABSTRACTThe recently described skeletal myopathy from dual inheritance of TTN and SRPK3 genetic variants has demonstrated digenic inheritance constitutes an under-recognised burden amongst inherited neuromus
