Muscle biopsy and mitochondrial disease criteria as diagnostic tools for paediatric patients presenting with neuromuscular phenotypes: highlighting the role of secondary mitochondrial dysfunction.

Abstract excerpt

This study evaluated the diagnostic utility of muscle biopsy and the performance of the Nijmegen and modified Walker criteria in a real-life paediatric cohort with neuromuscular symptoms. A retrospective review at Oulu University Hospital included 220 paediatric patients with unexplained neuromuscular symptoms who underwent muscle biopsy between 1990 and 2024. Clinical data were collected, and patients were...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Biopsy