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

Lambert-Cheatham, Nathan A; Tessema, Sophia T; Subei, Obada; Sakuru, Ragha C; Fullmer, Matthew D; Selner, Elizabeth M; Vidal-Folch, Noemi; Chang, Howard T; Hasadsri, Linda; Kaufman, David I

Lambert-Cheatham, Nathan A; Tessema, Sophia T; Subei, Obada; Sakuru, Ragha C; Fullmer, Matthew D; Selner, Elizabeth M; Vidal-Folch, Noemi; Chang, Howard T; Hasadsri, Linda; Kaufman, David I.

Afiliação

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.

J Neuroophthalmol ; 43(4): e260-e263, 2023 Dec 01.

Article em En | MEDLINE | ID: mdl-35483062

Assuntos

Heteroplasmia; Oftalmoplegia Externa Progressiva Crônica; Humanos; Reação em Cadeia da Polimerase; DNA Mitocondrial/genética; Prognóstico

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmoplegia Externa Progressiva Crônica / Heteroplasmia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Neuroophthalmol Assunto da revista: NEUROLOGIA / OFTALMOLOGIA Ano de publicação: 2023 Tipo de documento: Article

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