DILATED CARDIOMYOPATHY AS RESULT OF A MUTATION IN A SPECIFIC REGION OF THE DML/BDM GENE

Pubblicazioni Scientifiche

• 1994 NEUROMUSCULAR DISORDERS

  MUTATION OF DYSTROPHIN GENE AND CARDIOMYOPATHY

• 1995 HUMAN MOLECULAR GENETICS

  SSCP DETECTION OF NOVEL MUTATIONS IN PATIENTS WITH EMERY-DREIFUSS MUSCULAR-DYSTROPHY - DEFINITION OF A SMALL C-TERMINAL REGION REQUIRED FOR EMERIN FUNCTION

• 2001 NEUROMUSCULAR DISORDERS

  Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

• 1994 HUMAN MOLECULAR GENETICS

  NOVEL SMALL MUTATIONS ALONG THE DMD/BMD GENE ASSOCIATED WITH DIFFERENT PHENOTYPES

• 1996 JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

  Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies

• 1995 MUSCLE & NERVE

  EVALUATION OF THE CARDIOMYOPATHY IN BECKER MUSCULAR-DYSTROPHY