MITOCHONDRIAL MYOPATHIES DUE TO RESPIRATORY CHAIN DEFECTS

Pubblicazioni Scientifiche

• BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia

• ELECTROMYOGRAPHY AND MOTOR CONTROL-ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY

  Functional involvement of central nervous system in mitochondrial disorders

• MUSCLE & NERVE

  Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)

• NEUROLOGY

  HIGH-LEVELS OF MITOCHONDRIAL-DNA WITH AN UNSTABLE 260-BP DUPLICATION IN A PATIENT WITH MITOCHONDRIAL MYOPATHY

• NEUROMUSCULAR DISORDERS

  A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene