Predicting Prognosis in CPEO With mtDNA Deletions: A Case Demonstrating the Advantages of Measuring Heteroplasmy With Novel Droplet Digital Polymerase Chain Reaction Testing.

Autor: Lambert-Cheatham NA; Department of Neurology and Ophthalmology (NL-C, ST, RCS, HTC, DK), Michigan State University, East Lansing, Michigan; Department of Neurology, Banner Neuroscience Institute (OS), University of Arizona, Phoenix, Arizona; Department of Ophthalmology (MF), Beaumont Hospital, Taylor, Michigan; Department of Pathology (HTC), Sparrow Health System, Lansing, Michigan; and Department of Laboratory Medicine and Pathology (ES, NV-F, and LH), Genomics Laboratory, Mayo Clinic, Rochester, Minnesota., Tessema ST, Subei O, Sakuru RC, Fullmer MD, Selner EM, Vidal-Folch N, Chang HT, Hasadsri L, Kaufman DI

Publikováno v: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2023 Dec 01; Vol. 43 (4), pp. e260-e263. Date of Electronic Publication: 2022 Apr 27.