A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

BACKGROUND: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-thre...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Legati, Andrea, Reyes, Aurelio, Ceccatelli Berti, Camilla, Stehling, Oliver, Marchet, Silvia, Lamperti, Costanza, Ferrari, Alberto, Robinson, Alan J, Mühlenhoff, Ulrich, Lill, Roland, Zeviani, Massimo, Goffrini, Paola, Ghezzi, Daniele
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
Assuntos:
Neurogenetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740555/
https://ncbi.nlm.nih.gov/pubmed/29079705
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-104822
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