1 results match your criteria: "Metabolic Disease Centre Munich-Schwabing and Institute of Clinical Chemistry[Affiliation]"
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.
J Med Genet
October 2001
Metabolic Disease Centre Munich-Schwabing and Institute of Clinical Chemistry, Diagnostic Molecular Biology, and Mitochondrial Genetics, Munich, Germany.
Article Synopsis
- The study aimed to assess the occurrence of pathogenic mitochondrial transfer RNA (mtRNA) mutations in patients with respiratory chain (RC) deficiencies.
- The research involved screening skeletal muscle DNA from 225 patients showing symptoms of mitochondrial disorders, revealing that 29% had pathogenic mutations, with a higher detection rate in adults (48%) compared to children (18%).
- The findings also include novel mtRNA sequence variations and highlight a specific heteroplasmic mutation linked to a unique neurological syndrome.