Characterizing the spectrum of mitochondrial DNA deletion disease syndromes
DNA
Children's Hospital of Philadelphia Feb 21 2025 Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) have better characterized a spectrum of what were classically considered discrete mitochondrial DNA deletion disease syndromes. The findings offer new insights into genetic causes, potential symptoms, and disease progression, and may inform future clinical trial development. The findings were published today in the journal Genetics in Medicine .
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