Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial...
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
About this item
Full title
Author / Creator
Benincá, Cristiane , Zanette, Vanessa , Brischigliaro, Michele , Johnson, Mark , Reyes, Aurelio , Valle, Daniel Almeida do , 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 and Zeviani, Massimo
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group LTD
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Scope and Contents
Contents
BackgroundMitochondria 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. APOO encodes MIC26, a component of MICOS, whose exact...
Alternative Titles
Full title
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
Authors, Artists and Contributors
Author / Creator
Zanette, Vanessa
Brischigliaro, Michele
Johnson, Mark
Reyes, Aurelio
Valle, Daniel Almeida do
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7116790
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7116790
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-106861
