Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

A

Axial T2‐weighted imaging of Subject 1 at 21 months showed bilateral hyperintense signals in the pons (arrows).

B

Coronal T2‐weighted imaging of Subject 1 at 21 months showed bilateral hyperintense signals in the thalami and substantia nigra (arrows).

C

Axial T2‐weighted imaging of Subject 2 at 10 days of age showed bilateral hyperintense signals in the basal ganglia (arrows).

D

Sagittal T2 imaging of Subject 2 at 10 days of age showed Dandy‐Walker malformation and thinning of the corpus callosum (arrows).

E, F

Axial and coronal (respectively) T2‐weighted imaging of Subject 3 at 5 months of age showed bilateral hyperintense signals in the thalami (arrows).

Figure EV1. Neuroimaging of Subjects 1, 2 and 3 reveals signal abnormalities suggestive of mitochondrial disease involvement.