{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Beninca C"],"funding":["Medical Research Foundation","Coordenação de Aperfeiçoamento de Pessoal de Nível Superior","Medical Research Council","Università degli Studi di Padova","MRF_","Institut de France"],"pagination":["155-167"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7116790"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["58(3)"],"pubmed_abstract":["<h4>Background</h4>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. <i>APOO</i> encodes MIC26, a component of MICOS, whose exact function in its maintenance or assembly has still not been completely elucidated.<h4>Methods</h4>We have studied a family in which the most affected subject presented progressive developmental delay, lactic acidosis, muscle weakness, hypotonia, weight loss, gastrointestinal and body temperature dysautonomia, repetitive infections, cognitive impairment and autistic behaviour. Other family members showed variable phenotype presentat"],"journal":["Journal of medical genetics"],"pubmed_title":["Mutation in the MICOS subunit gene &lt;i&gt;APOO&lt;/i&gt; (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features."],"pmcid":["PMC7116790"],"funding_grant_id":["MRF-175-0001-RG-ZEVI-C0898","001","MC_EX_MR/P007031/1","MC_UP_1002/1","MC_U105674181","MC_UU_00015/8","MC_UU_00015/7","MC_UU_00015/6","MC_UU_00015/5","MC_U105184326"],"pubmed_authors":["Degiorgi A","R de Souza RL","Beninca C","Johnson M","Reyes A","Prudent J","Fernandez-Vizarra E","Whitworth AJ","Baruffini E","Zeviani M","Yeates A","S F Santos ML","Valle DAD","Telles BA","Zanette V","Brischigliaro M","J Robinson A"],"additional_accession":[]},"is_claimable":false,"name":"Mutation in the MICOS subunit gene &lt;i&gt;APOO&lt;/i&gt; (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.","description":"<h4>Background</h4>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. <i>APOO</i> encodes MIC26, a component of MICOS, whose exact function in its maintenance or assembly has still not been completely elucidated.<h4>Methods</h4>We have studied a family in which the most affected subject presented progressive developmental delay, lactic acidosis, muscle weakness, hypotonia, weight loss, gastrointestinal and body temperature dysautonomia, repetitive infections, cognitive impairment and autistic behaviour. Other family members showed variable phenotype presentat","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Mar","modification":"2026-06-14T06:23:14.6Z","creation":"2021-02-22T08:08:55Z"},"accession":"S-EPMC7116790","cross_references":{"pubmed":["32439808"],"doi":["10.1136/jmedgenet-2020-106861"]}}