SYSTEMATIC STUDY OF DYSTROPHINOPATHIES AND DYSTROPHIN-ASSOCIATED PROTEINS DEFICIENCIES: SEARCH FOR UNUSUAL EXPRESSIONS

Pubblicazioni Scientifiche

• 2002 NEUROPEDIATRICS

  Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria

• 1999 EUROPEAN NEUROLOGY

  Unusual clinical expression of dystrophinopathy in a female, mimicking a congenital myopathy

• 1999 ACTA NEUROPATHOLOGICA

  Variable histological expression of dystrophinopathy in two females

• 2000 NEUROLOGY

  Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family

• 2001 CLINICAL NEUROPATHOLOGY

  Late onset and very mild course of Xp21 Becker type muscular dystrophy