Good morning
¿Has any researcher used The Nijmegen Mitochondrial Disease Scale validated in the adult population with results? Since I want to use it based on previous experiences. I look forward to your response and collaboration in this regard.
Sincerely
Milton E. Londoño Lemos 📷M.Sc.; Ph.D.; Postdoctoral Researcher
Fernando Galan
In my opinion, the diagnostic criteria for mitochondrial disease are not currently appropriate because:
1. Multisystem: they can present any symptoms and not only those restricted to classic síndromes.
2. Metabolic: none are specific.
3. Morphology: biopsy is only necessary if genetic testing is not diagnostic. And I would add if we want to accurately diagnose single or multiple deletions
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