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<p>This review seeks to provide neuroradiologists and clinicians with an imaging-based pattern recognition framework for primary mitochondrial disorders affecting the central nervous system (CNS). By utilising a comprehensive imaging phenotype approach to CNS mitochondrial disorders, it highlights the wide spectrum of neuroimaging patterns and the complexities they present in clinical settings. Using illustrative case examples, the review demonstrates how imaging acts as a vital bridge between clinical phenotypes and genotypes.</p>

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Imaging patterns of paediatric CNS mitochondrial disorders

  • 期刊论文

  • 发表日期：

    2025年11月5日

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  • Pritika Gaur,
  • Cesar Alves,
  • Harun Yildiz,
  • Kshitij Mankad,
  • Sniya Sudhakar,
  • Shamima Rahman,
  • Asthik Biswas

摘要

This review seeks to provide neuroradiologists and clinicians with an imaging-based pattern recognition framework for primary mitochondrial disorders affecting the central nervous system (CNS). By utilising a comprehensive imaging phenotype approach to CNS mitochondrial disorders, it highlights the wide spectrum of neuroimaging patterns and the complexities they present in clinical settings. Using illustrative case examples, the review demonstrates how imaging acts as a vital bridge between clinical phenotypes and genotypes.