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.