[태그:] LHON
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Mitochondrial Disease Doesn’t Arrive Looking Typical
Key findings The picture we wait for Ask a clinician to describe mitochondrial disease and you’ll usually hear the same picture: Elevated lactate. Ragged-red fibers on biopsy. A child with multi-organ involvement. The problem is that mtDNA variants are rarely suspected until that picture appears. And when the picture never appears, there is no opportunity…