MITOCHONDRIAL MYOPATHIES DUE TO RESPIRATORY CHAIN DEFECTS

Pubblicazioni Scientifiche

• 1998 NEUROMUSCULAR DISORDERS

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

• 1995 NEUROLOGY

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

• 1996 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

• 1997 MUSCLE & NERVE

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

• 1995 JOURNAL OF THE NEUROLOGICAL SCIENCES

  ABNORMAL BRAIN AND MUSCLE ENERGY-METABOLISM SHOWN BY P-31-MRS IN FAMILIAL HEMIPLEGIC MIGRAINE

• 1994 MUSCLE & NERVE

  OPHTHALMOPLEGIA, DEMYELINATING NEUROPATHY, LEUKOENCEPHALOPATHY MYOPATHY, AND GASTROINTESTINAL DYSFUNCTION WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA - A MITOCHONDRIAL MULTISYSTEM DISORDER IN SEARCH OF A NAME

• 1997 ELECTROMYOGRAPHY AND MOTOR CONTROL-ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY

  Functional involvement of central nervous system in mitochondrial disorders