Fig. 1: Instrumental findings and sequence analysis in the Patient. | European Journal of Human Genetics

Fig. 1: Instrumental findings and sequence analysis in the Patient.

From: A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

Fig. 1

A Pedigree of the investigated family. Affected patients are indicated with black symbols. Arrow indicates the proband described in the report. The genotype for the COX18 variant c.667 G > C is indicated in the symbol of genotyped subjects (+/+ homozygous, +/– heterozygous carrier, –/– absence of the variant). B Sequence electropherograms showing the COX18 c.667 G > C variant in the patient and her unaffected parents. C Conservation of the human Asp223 residue across species and in the human OXA1L insertase protein. D Scheme of the COX18 gene and its encoded gene product displaying transmembrane (TM) domains. E Relative gene expression levels in human control tissues of COX18 compared to ECHS1 (encoding a mitochondrial matrix protein).

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