Abstract
A 64 year old woman presenting with ptosis, ophthalmoparesis, fatigue and exercise intolerance with disease onset in the fourth decade and no family history of neurological disease. Muscle biopsy revealed cytochrome-c oxidase deficient and ragged red fibres and Southern blot analysis confirmed multiple mitochondrial DNA deletions due to compound heterozygous POLG mutations.
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Reference
Saneto RP, Naviaux RK. Polymerase gamma disease through the ages. Dev Disabil Res Rev. 2010;16(2):163–74.
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Pitceathly, R.D.S., Rahman, S., Hanna, M.G. (2017). Longstanding Drooping Eyelids. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_29
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_29
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