NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

Virginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, Kathy Hall, Lan Weiss, Alexander E. Stover, Philip H Schwartz, Bethany Berg, Cheng Cheng, Sumit Parikh, Blair R. Conner, Sitao Wu, Anton N Hasso, Daryl A Scott, Mary Kay Koenig, Rachid Karam, PhD, Sha Tang, Moyra Smith, Elizabeth Chao, Janneke Balk, Eli Hatchwell, Peggy S Eis