Clinical features:
Gradual progressive generalised dystonia, choreoathetosis, febrile illness,
Genetics:
Mitochondrial DNA: ND6 gene, T1487C mutation,
Findings on investigations:
Respiratory chain analysis: decreased activity of complex 1
Gradual progressive generalised dystonia, choreoathetosis, febrile illness,
Mitochondrial DNA: ND6 gene, T1487C mutation,
Respiratory chain analysis: decreased activity of complex 1