Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature

We report about a patient with infantile-onset neurodegenerative disease associated with isolated mitochondrial respiratory chain complex III (cIII) deficiency. The boy, now 13 years old, presented with language regression and ataxia at 4 years of age and then showed a progressive course resulting i...

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Vydáno v:JIMD Rep
Hlavní autoři: Ardissone, Anna, Granata, Tiziana, Legati, Andrea, Diodato, Daria, Melchionda, Laura, Lamantea, Eleonora, Garavaglia, Barbara, Ghezzi, Daniele, Moroni, Isabella
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4486273/
https://ncbi.nlm.nih.gov/pubmed/25772319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_419
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