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Neurol Genet. 2016 Nov 17;2(6):e121. eCollection 2016 Dec.

Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic.

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Neurologic Clinic and Policlinic (A.-K.P., P.F., L.K., M.S.), Departments of Medicine and Biomedicine; Division of Neuroradiology (J.L.), Department of Radiology; and Division of Neuropathology (J.H., S.F.), Department of Pathology, University Hospital Basel, University of Basel, Switzerland; Division of Human Genetics (A.S.), Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland.


Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome1 is one of the most frequently inherited mitochondrial disorders. MELAS syndrome is a systemic disease with multiple organ involvement.2 The most common mutation in MELAS is the m.3243A>G mutation in the MT-TL1 gene.2.

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