Article
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Orphanet journal of rare diseases - 2 Apr 2015
Koch Johannes, Freisinger Peter, Feichtinger René G, Zimmermann Franz A, Rauscher Christian, Wagentristl Hans P, Konstantopoulou Vassiliki, Seidl Rainer, Haack Tobias B, Prokisch Holger, Ahting Uwe, Sperl Wolfgang, Mayr Johannes A, Maier Esther M
Abstract excerpt
BACKGROUND: TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far. METHODS: We performed exome sequencing and selective mutational analysis of TTC19, respectively, in patients from three unrelated families presenting with initially...
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