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Table 1: Genetic testing results and clinical presentation
Patient No. Sex Age^{^a} (yr) No. of MR Imaging Studies Available Genetic Testing Results Clinical Presentation: First Available MR Imaging
1^{^b} Female 20 2 MT-TL1 m.3243A>G Stroke-like episode
Right facial numbness
2^{^b} Female 27 1 MT-TL1 m.3243A>G Heteroplasmy 21% Asymptomatic
Screening MRI after sibling diagnosed
3 Male 56 1 MT-TL1 m.3243A>G Follow-up study
Childhood diagnosis
4 Female 23 10 MT-TL1 m.3243A>G Stroke-like episode
Right hemiparesthesia followed 1 week later by partial status epilepticus
5 Female 32 2 MT-TL1 m.3243A>G Follow-up study
Childhood diagnosis
6 Female 18 8 MT-TL1 m.3243A>G Seizure
Left upper limb paresthesia with secondary generalization
7 Male 26 6 MT-TL1 m.3243A>G Encephalopathy
Confusion and headaches
8 Female 40 1 MT-TL1 m.3243A>G Stroke-like episode
Right homonymous hemianopia
Note:—MT-TL1 m.3243A>G indicates a substitution point mutation of adenine for guanine at nucleotide pair 3243 in the MT-TL1 mitochondrial DNA sequence (associated with 80% of all MELAS cases).
↵a Age at time of first MR imaging available for review.
↵b Siblings.