A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
Titel:
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
Auteur:
Pula, Shpresa Urankar, Kathryn Norman, Andrew Pierre, Germaine Langton-Hewer, Simon Selby, Victoria Mason, Faye Vijayakumar, Kayal McFarland, Robert Taylor, Robert W. Majumdar, Anirban