A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations

Recent research has suggested that transmembrane protein 65 (TMEM65) is localized within the inner mitochondrial membrane. Little else is known about its function. In this study we investigated the location and function of TMEM65. Further, we report the functional consequences of a novel homozygous...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Nazli, Aisha, Safdar, Adeel, Saleem, Ayesha, Akhtar, Mahmood, Brady, Lauren I, Schwartzentruber, Jeremy, Tarnopolsky, Mark A
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5477357/
https://ncbi.nlm.nih.gov/pubmed/28295037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.20
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