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 str...

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Bibliographic Details
Main Authors: Melchionda, Laura, Damseh, Nadirah S., Abu Libdeh, Bassam Y., Nasca, Alessia, Elpeleg, Orly, Zanolini, Alice, Ghezzi, Daniele
Format: Online
Language:English
Published: Frontiers Media S.A. 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231952/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231952/

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