THE d-SARCOGLYCAN GENE: IDENTIFICATION OF MUTATIONS AND STUDY OF THE SARCOGLYCAN COMPLEX DISRUPTION IN PATIENTS WITH LIMB-GIRDLE MUSCULAR DYSTROPHIES AND IN AN ANIMAL MODEL OF HUMAN SARCOGLYCANOPATHIES

Pubblicazioni Scientifiche

• 1998 FEBS LETTERS

  Identification and characterization of a novel member of the dystrobrevin gene family

• 1996 NATURE GENETICS

  Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

• 1998 HUMAN HEREDITY

  Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families

• 1997 GENOMICS

  Exon-intron organization of the human dystrophin gene

• 1996 HUMAN MOLECULAR GENETICS

  Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

• 1997 FEBS LETTERS

  The fourth component of the sarcoglycan complex

• 1998 JOURNAL OF MEDICAL GENETICS

  A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

• 1997 HUMAN MOLECULAR GENETICS

  Identification of the syrian hamster cardiomyopathy gene

• 1996 HUMAN MOLECULAR GENETICS

  The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies