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Author

Hari P. Tunuguntla

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Case report Open access Aug 2026

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10).

A 9-year-old male with biallelic COX14 variants presents an attenuated encephalomyopathic phenotype with novel endocrine and cardiovascular manifestations, underscoring the importance of genomic evaluation in suspected mitochondrial disorders even in the absence of classic biochemical markers such as lactic acidosis.

Elias K. Awad, Emily Waskow, Hari P. Tunuguntla et al. · 0 citations

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