A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia and bilateral basal ganglia lesions

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia and bilateral basal ganglia lesions

Isolated complex III (cIII) deficiency is a rare biochemical finding in mitochondrial disorders, mainly associated with mutations in mitochondrial DNA MTCYB gene, encoding cytochrome b, or in assembly factor genes (BCS1L, TTC19, UQCC2 and LYRM7), whereas mutations in nuclear genes encoding cIII stru...

Full description

Bibliographic Details
Main Authors: Laura eMelchionda, Nadirah S Damseh, Bassam Y Abu Libdeh, Alessia eNasca, Orly eElpeleg, Alice eZanolini, Daniele eGhezzi
Format: Article
Language:English
Published: Frontiers Media S.A. 2014-11-01
Series:Frontiers in Genetics
Subjects:
Mitochondrial Diseases
novel mutations
Encephalomyopathy
Complex III deficiency
TTC19
Bilateral basal ganglia lesions
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00397/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00397/full

Similar Items