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Fig. 1 | BMC Neurology

Fig. 1

From: A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4

Fig. 1

a 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)

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