Reversible Infantile Respiratory Chain Deficiency is a Unique, Genetically Heterogenous Mitochondrial Disease

OBJECTIVES: Homoplasmic maternally inherited, m.14674T>C or m. 14674T>G mt-tRNA(Glu) mutations have recently been identified in Reversible infantile cytochrome c oxidase deficiency (or “Benign COX deficiency”). We sought other genetic defects that may give rise to similar presentations. PATIEN...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Uusimaa, J, Jungbluth, H, Fratter, C, Crisponi, G, Feng, L, Zeviani, M, Hughes, I, Treacy, EP, Birks, J, Brown, GK, Sewry, CA, McDermott, M, Muntoni, F, Poulton, J
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4562368/
https://ncbi.nlm.nih.gov/pubmed/21931168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2011.089995
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