SCREENING FOR MILD Xp21 MYOPATHIES: ANALYSIS OF ATYPICAL PHENOTYPES, STUDY OF THEIR EVOLUTION

Pubblicazioni Scientifiche

• 1994-03-01 AMERICAN JOURNAL OF MEDICAL GENETICS

  OCCURRENCE OF 2 DIFFERENT INTRAGENIC DELETIONS IN 2 MALE RELATIVES AFFECTED WITH DUCHENNE MUSCULAR-DYSTROPHY

• 1987-03-01 HUMAN GENETICS

  POPULATION-DATA ON BENIGN AND SEVERE FORMS OF X-LINKED MUSCULAR-DYSTROPHY

• 1996-01-01 HUMAN MOLECULAR GENETICS

  A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy

• 1997-01-01 HUMAN MUTATION

  Novel mutations and polymorphism in the human dystrophin gene detected by double-strand conformation analysis

• 1995-10-01 MUSCLE & NERVE

  DYSTROPHIN POSITIVE FIBERS IN DUCHENNE DYSTROPHY - ORIGIN AND CORRELATION TO CLINICAL COURSE

• 1995-11-01 NATURE GENETICS

  BETA-SARCOGLYCAN (A3B) MUTATIONS CAUSE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH LOSS OF THE SARCOGLYCAN COMPLEX

• 1998-09-01 NATURE GENETICS

  Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy