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Sex f f f Height (cm) 140 np 147.5 Weight (kg) 25.1 np 47.8 Age at onset (y) 10 12 39 First manifestation SLE SLE Diabetes Presentation vomiting, headache, multiple strokes staggering gait, cerebral atrophy, headache, vomiting bradykinesia, rigidity, multiple strokes seizures, forced crying/laughing, blurring, seizures, bloating abdominal pain, abdominal pain, vomiting, dystonia bloating muscle weakness, hypoacusis, myopathy gait ataxia, neuropathy, increased reflexes, cerebral atrophy, hot cross bun sign, urinary retention NOO involved 4 2 5 Creatin kinase (U/L) 105 np 16 Lactate (mg/dL) 14.7 np 19.4 Degree of progression np np np Age at death (y) 23 22 54 Cause of death Aspiration pneumonia Renal failure Aspiration pneumonia Genetic cause m.3243A>G m.3243A>G m.3243A>G Sampled tissue blood blood blood Heteroplasmy rate np np np

Gastrointestinal Involvement in m.3243A>G-associated MELAS