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combined oxidative phosphorylation deficiency type 15 (COXPD15)
Pathology:
- mitochondrial disease, neurologic disorder
- combined oxidative phosphorylation deficiency
Genetics:
- autosomal recessive
- associated with defects in MTFMT
Clinical manifestations:
- features of Leigh syndrome
- mild global developmental delay
- ataxia, incoordination
- speech & reading difficulties
Radiology:
- white matter abnormalities
- T2-weighted hyperintensities in the basal ganglia, corpus callosum, & brainstem
Laboratory:
- MTFMT gene mutation
General
combined oxidative phosphorylation deficiency (COXPD)
Database Correlations
OMIM 614947]
References
- UniProt :accession P49411
- OMIM :accession 614096