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Document type:
journal article 
Author(s):
Jackson, Christopher Benjamin; Nuoffer, Jean-Marc; Hahn, Dagmar; Prokisch, Holger; Haberberger, Birgit; Gautschi, Matthias; Häberli, Annemarie; Gallati, Sabina; Schaller, André 
Title:
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. 
Abstract:
Defects of the mitochondrial respiratory chain complex II (succinate dehydrogenase (SDH) complex) are extremely rare. Of the four nuclear encoded proteins composing complex II, only mutations in the 70 kDa flavoprotein (SDHA) and the recently identified complex II assembly factor (SDHAF1) have been found to be causative for mitochondrial respiratory chain diseases. Mutations in the other three subunits (SDHB, SDHC, SDHD) and the second assembly factor (SDHAF2) have so far only been associated wi...    »
 
Journal title abbreviation:
J Med Genet 
Year:
2014 
Journal volume:
51 
Journal issue:
Pages contribution:
170-5 
Language:
eng 
Print-ISSN:
0022-2593 
TUM Institution:
Institut für Humangenetik