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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. 
Abstract:
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.We performed exome sequencing and selective mutational analysis of TTC19, respectively, in patients from three unrelated families presenting with initially unspecific clinical signs of muscular hypotonia and global developmental delay followed by regression, ataxia, los...    »
 
Zeitschriftentitel:
Orphanet J Rare Dis 
Jahr:
2015 
Band / Volume:
10 
Seitenangaben Beitrag:
40 
Sprache:
eng 
TUM Einrichtung:
Institut für Humangenetik