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Titel:

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Haack, Tobias B; Rolinski, Boris; Haberberger, Birgit; Zimmermann, Franz; Schum, Jessica; Strecker, Valentina; Graf, Elisabeth; Athing, Uwe; Hoppen, Thomas; Wittig, Ilka; Sperl, Wolfgang; Freisinger, Peter; Mayr, Johannes A; Strom, Tim M; Meitinger, Thomas; Prokisch, Holger
Abstract:
Defects of mitochondrial oxidative phosphorylation constitute a clinical and genetic heterogeneous group of disorders affecting multiple organ systems at varying age. Biochemical analysis of biopsy material demonstrates isolated or combined deficiency of mitochondrial respiratory chain enzyme complexes. Co-occurrence of impaired activity of the pyruvate dehydrogenase complex has been rarely reported so far and is not yet fully understood. We investigated two siblings presenting with severe neona...     »
Zeitschriftentitel:
J Inherit Metab Dis
Jahr:
2013
Band / Volume:
36
Heft / Issue:
1
Seitenangaben Beitrag:
55-62
Sprache:
eng
Volltext / DOI:
doi:10.1007/s10545-012-9489-7
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/22562699
Print-ISSN:
0141-8955
TUM Einrichtung:
Institut für Humangenetik
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