A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

We thank Finsterer et al.¹ for their commentary on our article.² The authors comment on our paper and review other patients with multiple mitochondrial dysfunctions syndrome.

As stated in our manuscript, we investigated two families who have lost four children with this condition. Hence we could not prospectively evaluate the clinical features of these children. A review of medical records revealed clinically unremarkable respiratory, cardiac, renal, skin and endocrine status. We were unable to perform muscle biopsy and test for mitochondrial depletion as well.

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