Two novel compound heterozygous mutations in <i>OPA3</i> in two siblings with OPA3-related 3-methylglutaconic aciduria.

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

Lam, Christina; Gallo, Linda K; Dineen, Richard; Ciccone, Carla; Dorward, Heidi; Hoganson, George E; Wolfe, Lynne; Gahl, William A; Huizing, Marjan.

Lam C; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Gallo LK; Department of Pediatrics, Edward Hospital, Naperville, Illinois, USA.
Dineen R; Department of Pediatrics, University of Illinois, Chicago, Illinois, USA.
Ciccone C; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Dorward H; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Hoganson GE; Department of Pediatrics, University of Illinois, Chicago, Illinois, USA.
Wolfe L; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Huizing M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.