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

Pubblicazioni Scientifiche

• 1999-06-01 ACTA NEUROPATHOLOGICA

  Variable histological expression of dystrophinopathy in two females

• 2001-09-01 CLINICAL NEUROPATHOLOGY

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

• 1999-01-01 EUROPEAN NEUROLOGY

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

• 2000-01-25 NEUROLOGY

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

• 2002-04-01 NEUROPEDIATRICS

  Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria