Morphological Findings of Extraocular Myopathy with Chronic Progressive External Ophthalmoplegia

Autor:	Joseph Alroy, Andre Witking, Tee Lang, Nora Laver, Mitchell B. Strominger, Rolf Pfannl
Rok vydání:	2010
Předmět:	Ophthalmoplegia Chronic Progressive External Weakness Mitochondrial DNA Pathology medicine.medical_specialty Mitochondrial disease Muscle Fibers Skeletal Biology Mitochondrion Mitochondrial Size DNA Mitochondrial Pathology and Forensic Medicine Microscopy Electron Transmission Structural Biology medicine Humans Aged Medial rectus muscle Middle Aged medicine.disease Nuclear DNA Oculomotor Muscles Mutation Female medicine.symptom Chronic progressive external ophthalmoplegia
Zdroj:	Ultrastructural Pathology. 34:78-81
ISSN:	1521-0758 0191-3123
DOI:	10.3109/01913121003624684
Popis:	Mitochondrial diseases are a large group of disorders resulting from mutations of nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Patients present clinically with multiple manifestations, including myopathies and multiple system disorders. Establishing a specific diagnosis often requires extensive clinical and laboratory evaluation. In this study of 2 adult patients with presumptive mitochondrial disease, the authors have identified distinctive morphological changes in medial rectus muscle biopsies that confirm the diagnosis of chronic progressive external ophthalmoplegia (CPEO). These findings demonstrate the usefulness of electron microscopy using medial rectus muscle in the diagnosis of adult patients with a slowly progressive course of mild skeletal weakness and CPEO.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b174da824f3d6bb789e174da4ca7c5a https://doi.org/10.3109/01913121003624684 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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