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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Detalles Bibliográficos
Autores principales: Melchionda, Laura, Damseh, Nadirah S., Abu Libdeh, Bassam Y., Nasca, Alessia, Elpeleg, Orly, Zanolini, Alice, Ghezzi, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231952/
https://www.ncbi.nlm.nih.gov/pubmed/25452764
http://dx.doi.org/10.3389/fgene.2014.00397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231952/
https://www.ncbi.nlm.nih.gov/pubmed/25452764
http://dx.doi.org/10.3389/fgene.2014.00397

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