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Erschienen in: InFo Neurologie + Psychiatrie 10/2016

22.10.2016 | Neurologische Diagnostik | zertifizierte fortbildung

Hereditäre Stoffwechselstörungen

Mitochondriale Erkrankungen

verfasst von: Dr. med. Claudia Stendel, Prof. Dr. med. Thomas Klopstock

Erschienen in: InFo Neurologie + Psychiatrie | Ausgabe 10/2016

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Zusammenfassung

Mitochondriale Erkrankungen gehören zu den häufigsten hereditären Stoffwechselerkrankungen. Sie können in jedem Alter auftreten, mono- oder oligosymptomatisch verlaufen und jegliche Organmanifestation zeigen, was die Diagnosestellung oft erschwert und hinauszögert. Eine Muskelbiopsie ist heute nur noch in unklaren Fällen sowie bei Verdacht auf eine chronisch progrediente externe Ophthalmoplegie oder ein Kearns-Sayre-Syndrom notwendig, ansonsten kann die Diagnose insbesondere bei klassischen klinischen Phänotypen direkt molekulargenetisch erfolgen.
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Metadaten
Titel
Hereditäre Stoffwechselstörungen
Mitochondriale Erkrankungen
verfasst von
Dr. med. Claudia Stendel
Prof. Dr. med. Thomas Klopstock
Publikationsdatum
22.10.2016
Verlag
Springer Medizin
Erschienen in
InFo Neurologie + Psychiatrie / Ausgabe 10/2016
Print ISSN: 1437-062X
Elektronische ISSN: 2195-5166
DOI
https://doi.org/10.1007/s15005-016-1783-8

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