Journal article
Mitochondrial Encephalopathy and Optic Neuropathy Due to m.10158 MT-ND3 Complex I Mutation Presenting in an Adult Patient: Case Report and Review of the Literature
The Neurologist (Baltimore, Md.), Vol.21(4), pp.61-65
07/2016
DOI: 10.1097/NRL.0000000000000084
PMID: 27348141
Abstract
Establishing a diagnosis of mitochondrial disease in adults remains a clinician's challenge. We report a case of syndrome reminiscent of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) in an adult patient who carries m.10158T>C mutation in complex I respiratory chain gene MT-ND3 (mitochondrially encoded NADH dehydrogenase 3).
Details
- Title: Subtitle
- Mitochondrial Encephalopathy and Optic Neuropathy Due to m.10158 MT-ND3 Complex I Mutation Presenting in an Adult Patient: Case Report and Review of the Literature
- Creators
- Ivana Vodopivec - Harvard Medical School †Department of Neurology, Massachusetts General Hospital ‡Massachusetts Eye and Ear Infirmary, Neuro-Ophthalmology Service §Massachusetts General Hospital, Neuropathology Service, Boston, MATracey A ChoJoseph F Rizzo IIIMatthew P FroschKatherine B Sims
- Resource Type
- Journal article
- Publication Details
- The Neurologist (Baltimore, Md.), Vol.21(4), pp.61-65
- Publisher
- United States
- DOI
- 10.1097/NRL.0000000000000084
- PMID
- 27348141
- ISSN
- 1074-7931
- eISSN
- 2331-2637
- Language
- English
- Date published
- 07/2016
- Academic Unit
- Neurology; Iowa Neuroscience Institute
- Record Identifier
- 9984020784302771
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