Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and...
Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay
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Author / Creator
Wei, Xiujuan , Du, Miaomiao , Xie, Jie , Luo, Ting , Zhou, Yan , Zhang, Kun , Li, Jin , Chen, Deyu , Xu, Pu , Jia, Manli , Zhou, Huaibin , Fang, Hezhi , Lyu, Jianxin and Yang, Yanling
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publisher
England: Nature Publishing Group
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Contents
TOM70 is a member of the TOM complex that transports cytosolic proteins into mitochondria. Here, we identified two compound heterozygous variants in TOMM70 [c.794C>T (p.T265M) and c.1745C>T (p.A582V)] from a patient with severe anemia, lactic acidosis, and developmental delay. Patient-derived immortalized lymphocytes showed decreased TOM70 expressi...
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Full title
Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay
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Record Identifier
TN_cdi_proquest_journals_2345500073
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2345500073
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-019-0714-1
