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Dokumenttyp:
journal article 
Autor(en):
Finsterer, Josef; Kovacs, Gabor G; Rauschka, Helmut; Ahting, Uwe 
Titel:
Adult, isolated respiratory chain complex IV deficiency with minimal manifestations. 
Abstract:
Isolated complex IV (cytochrome c oxidase) deficiency is one of the most frequent respiratory chain defects in mitochondrial disorders (MIDs) and usually occurs together with severe pediatric or rarely adult multisystem disease. Here we report an adult with isolated complex IV deficiency with unusually mild clinical manifestations.A 50-year-old man had developed generalized muscle aches and occasional twitching and stiffness of the musculature since age 48 years. He had a previous history of dia...    »
 
Zeitschriftentitel:
Folia Neuropathol 
Jahr:
2015 
Band / Volume:
53 
Heft / Issue:
Seitenangaben Beitrag:
153-7 
Sprache:
eng 
Print-ISSN:
1641-4640 
TUM Einrichtung:
Institut für Humangenetik