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

Pubblicazioni Scientifiche

• ACTA NEUROPATHOLOGICA

  Variable histological expression of dystrophinopathy in two females

• CLINICAL NEUROPATHOLOGY

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

• EUROPEAN NEUROLOGY

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

• NEUROLOGY

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

• NEUROPEDIATRICS

  Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria