Congenital skeletal muscle myopathy due to the recently described digenic inheritance of TTN and SRPK3 genetic variants: a case study.

Abstract excerpt

The recently described skeletal myopathy from dual inheritance of TTN and SRPK3 genetic variants has demonstrated digenic inheritance constitutes an under-recognised burden amongst inherited neuromuscular disorders. Neuromuscular specialist input is essential to guide appropriate genetic testing for these elusive diagnoses. Here we present the first case since the initial discovery of this condition, of an adult...

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