A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype o...
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Translation of mitochondrial-specific DNA is required for proper mitochondrial function and energy production. For this purpose, an elaborate network of dedicated molecular machinery including initiation, elongation and termination factors exists. We describe a patient with an unusual phenotype and a novel homozygous missense variant in TUFM (c.344...
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Full title
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
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TN_cdi_proquest_miscellaneous_2196526361
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2196526361
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-019-0592-6
