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Abstract
Mitochondrial myopathy is caused by mutations in nuclear or mitochondrial genes with resultant defects in the mitochondrial oxidative phosphorylation function. Patients with mitochondrial myopathy usually present with chronic progressive bilateral eyelid ptosis and ophthalmoplegia. They may also manifest fixed proximal limb weakness, cardiac conduction block, cardiomyopathy, hearing loss, retinopathy, and diabetes mellitus, among others. Here we present a case of mitochondrial myopathy with clinical, pathological, and genetic features consistent with Kearns-Sayre syndrome.
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Authors and Affiliations
Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA
Lan Zhou
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
Chunyu Cai
- Lan Zhou
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- Chunyu Cai
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Correspondence toLan Zhou.
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Editors and Affiliations
Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA
Lan Zhou
Department of Pathology, Neuropathology Section, University of Texas Southwestern Medical Center, Dallas, TX, USA
Dennis K. Burns
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
Chunyu Cai
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Zhou, L., Cai, C. (2020). A 25-Year-Old Woman with Droopy Eyelids and Double Vision. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_15
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