Clinical and Histopathological Study of Patients With Mitochondrial Abnormalities

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dc.contributor.authorEkmekci, Ozgul
dc.contributor.authorKarasoy, Hatice
dc.contributor.authorYuceyar, Nur
dc.date.accessioned2019-10-27T21:33:48Z
dc.date.available2019-10-27T21:33:48Z
dc.date.issued2012
dc.departmentEge Üniversitesien_US
dc.description.abstractObjective: Mitochondrial diseases are clinically heterogenous group of disorders with widely varying clinical features. Diagnosis can be difficult and requires synthesis of clinical, biochemical, histopathological and molecular data. These investigations may not be available in most medical centers. Muscle biopsy provides an important information to confirm a mitochondrial disease. Ragged red fibers and cytochrome oxidase negative fibers are the morphological hallmark of mitochondrial diseases. In this study, we aimed to analyze clinical features and histopathological findings of patients with mitochondrial abnormalities on muscle biopsy. Methods: We retrospectively evaluated demographic and neurologic features, presenting symptoms, additional systemic manifestations, syndromic features of patients with mitochondrial abnormalities on muscle biopsy, according to diagnostic criteria for mitochondrial cytopathies. Results: Among 936 muscle biopsy sample, 118 showed mitochondrial abnormalities. Eighty four patients were considered as primary mitochondrial disease based on clinical and histopathologic features. The diagnosis of 34 patients was nonmitochondrial diseases according to their clinical features and additional histopathologic findings. The most common syndrome was chronic progressive external ophtalmoplegia in 61 patients. Fifteen patients had isolated proximal myopathy and 4 patients had Kearns Sayre syndrome, 2 patients had SANDO, 1 patient had MNGIE, 1 patient had MLASA. Conclusion: Mitochondrial abnormalities occur in both mitochondrial diseases and many nonmitochondrial diseases. The majority of patients with primary mitochondrial disorders have ophtalmologic abnormalities or neuromuscular manifestations. The accurate diagnosis of mitochondrial diseases relies on a multidisciplinary approach and muscle biopsy is useful in both accurate diagnosis and differential diagnosis.en_US
dc.identifier.endpage818en_US
dc.identifier.issn1302-1664
dc.identifier.issue4en_US
dc.identifier.startpage810en_US
dc.identifier.urihttps://hdl.handle.net/11454/45415
dc.identifier.volume29en_US
dc.identifier.wosWOS:000312600000016en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isotren_US
dc.publisherJournal Neurological Sciencesen_US
dc.relation.ispartofJournal of Neurological Sciences-Turkishen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMitochondrial diseaseen_US
dc.subjectRagged red fibreen_US
dc.subjectCOX (-) fibreen_US
dc.subjectChronic progressive external ophtalmoplegiaen_US
dc.subjectMuscle biopsyen_US
dc.titleClinical and Histopathological Study of Patients With Mitochondrial Abnormalitiesen_US
dc.typeArticleen_US

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