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Progressive External Ophthalmoplegia and Vision and Hearing Loss in a Patient With Mutations in POLG2 and OPA1

OBJECTIVE: To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase γ (POLG2) and a mutation in the OPA1 gene. DESIGN: Clinical examination and morphological, biochemical,...

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Bibliographische Detailangaben
Hauptverfasser:	Ferraris, Silvio, Clark, Susanna, Garelli, Emanuela, Davidzon, Guido, Moore, Steven A., Kardon, Randy H., Bienstock, Rachelle J., Longley, Matthew J., Mancuso, Michelangelo, Ríos, Purificación Gutiérrez, Hirano, Michio, Copeland, William C., DiMauro, Salvatore
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	2008
Schlagworte:	Article
Online Zugang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC2364721/ https://ncbi.nlm.nih.gov/pubmed/18195150 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2007.9
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Progressive External Ophthalmoplegia and Vision and Hearing Loss in a Patient With Mutations in POLG2 and OPA1

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