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) |
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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: |
Anette van Dorland |
Date Deposited: |
16 Mar 2017 09:09 |
Last Modified: |
05 Dec 2022 15:01 |
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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