Fig. 1From: A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4a Pedigree of the family. Chromatograms represent homozygous and heterozygous state of c.355G > A variant in ISCA2 in the patient and his parents respectively. b, c Nearly symmetrical involvement of white matter in the axial view d Sagittal T2 view that shows extensive white matter signal change e Magnetic Resonance Spectroscopy that shows an increase in lactate levels and a relative increase in the choline with respect to N-acetyl aspartate (NAA)Back to article page