Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

BACKGROUND: Mitochondria provide ATP through the process of oxidative phosphorylation, physically located in the inner mitochondrial membrane (IMM). The mitochondrial contact site and organising system (MICOS) complex is known as the ‘mitoskeleton’ due to its role in maintaining IMM architecture. AP...

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Detalles Bibliográficos
Autores principales: Benincá, Cristiane, Zanette, Vanessa, Brischigliaro, Michele, Johnson, Mark, Reyes, Aurelio, do Valle, Daniel Almeida, J. Robinson, Alan, Degiorgi, Andrea, Yeates, Anna, Telles, Bruno Augusto, Prudent, Julien, Baruffini, Enrico, S. F. Santos, Mara Lucia, R. de Souza, Ricardo Lehtonen, Fernandez-Vizarra, Erika, J. Whitworth, Alexander, Zeviani, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Novel Disease Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7116790/
https://www.ncbi.nlm.nih.gov/pubmed/32439808
http://dx.doi.org/10.1136/jmedgenet-2020-106861

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7116790/
https://www.ncbi.nlm.nih.gov/pubmed/32439808
http://dx.doi.org/10.1136/jmedgenet-2020-106861

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