Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome
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Publisher
United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Contents
Introduction
COXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings with a mild phenotype.
Case reports
The young boy presented with global developmental delay, ataxic gait and upper limbs tremor, and the older sister with absence seizures and hypertrophic cardiomyopathy. Respir...
Alternative Titles
Full title
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome
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TN_cdi_doaj_primary_oai_doaj_org_article_87c20016d4e24472b53f622c77deabc8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_87c20016d4e24472b53f622c77deabc8
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ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.51980
