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

Pröbstel, Anne-Katrin; Schaller, André; Lieb, Johanna; Hench, Juergen; Frank, Stephan; Fuhr, Peter; Kappos, Ludwig; Sinnreich, Michael (2016). Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic. Neurology Genetics, 2(6), e121. Wolters Kluwer 10.1212/NXG.0000000000000121

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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome(1) 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).

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Faculty Institutions > Teaching Staff, Faculty of Medicine
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Humangenetik

UniBE Contributor:

Schaller, André

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2376-7839

Publisher:

Wolters Kluwer

Language:

English

Submitter:

André Schaller

Date Deposited:

16 Mar 2017 09:09

Last Modified:

19 Mar 2017 02:17

Publisher DOI:

10.1212/NXG.0000000000000121

PubMed ID:

27878137

BORIS DOI:

10.7892/boris.92683

URI:

https://boris.unibe.ch/id/eprint/92683

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