Mitochondrial Encephalomyopathies

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  Subject Areas on Research

  • Cardiac involvement in mitochondrial diseases, and vice versa. 
  • MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy. 
  • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation. 
  • Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.