a novel tufm homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

December 20, 2021 12:29 pm Published by Leave your thoughts

A novel homozygous missense variant in TUFM (c.344A>C) encoding mtDNA translation elongating factor Tu (EFTu) was identified by using Genoox software family analysis in trio-based Whole-exome sequencing.

The patient presented here expands the phenotypic features of TUFM-related disease, exhibiting lactic acidosis and dilated cardiomyopathy without progressive encephalopathy.

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