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Table 1:

Genetic testing results and clinical presentation

Patient No.SexAgea (yr)No. of MR Imaging Studies AvailableGenetic Testing ResultsClinical Presentation: First Available MR Imaging
1bFemale202MT-TL1 m.3243A>GStroke-like episode
Right facial numbness
2bFemale271MT-TL1 m.3243A>G Heteroplasmy 21%Asymptomatic
Screening MRI after sibling diagnosed
3Male561MT-TL1 m.3243A>GFollow-up study
Childhood diagnosis
4Female2310MT-TL1 m.3243A>GStroke-like episode
Right hemiparesthesia followed 1 week later by partial status epilepticus
5Female322MT-TL1 m.3243A>GFollow-up study
Childhood diagnosis
6Female188MT-TL1 m.3243A>GSeizure
Left upper limb paresthesia with secondary generalization
7Male266MT-TL1 m.3243A>GEncephalopathy
Confusion and headaches
8Female401MT-TL1 m.3243A>GStroke-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.