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Case of the Day
MELAS
Contributed by Frank Gaillard
The patient went on to have blood DNA sequenced which confirmed the diagnosis of MELAS.
Report
The variant NC_012920.1:m.3243A>G, associated with MELAS, was detected. This variant is linked to the patient’s symptoms of headache, confusion, hearing loss, ophthalmoplegia, and ptosis. The heteroplasmic level in the blood DNA sample is…
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