Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
J D Stewart, S Tennant, H Powell, A Pyle, E L Blakely, L He, G Hudson, M Roberts, D du Plessis, D Gow, L D Mewasingh, M G Hanna, S Omer, A A Morris, R Roxburgh, J H Livingston, R McFarland, D M Turnbull, P F Chinnery, R W Taylor
Journal of Medical Genetics Mar 2009, 46 (3) 209-214; DOI: 10.1136/jmg.2008.058180