SCREENING OF ADHALIN DEFICIENCY IN SCARMD PATIENTS, CLINICAL, BIOCHEMICAL AND MOLECULAR CHARACTERIZATION

Pubblicazioni Scientifiche

• 1997 NEW ENGLAND JOURNAL OF MEDICINE

  Mutations in the sarcoglycan genes in patients with myopathy

• 1996 MUSCLE & NERVE

  Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size?

• 1996 JOURNAL OF THE NEUROLOGICAL SCIENCES

  alpha-sarcoglycan (adhalin) deficiency: Complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations

• 1996 JOURNAL OF THE NEUROLOGICAL SCIENCES

  Prognostic factors in mild dystrophinopathies

• 1997 JOURNAL OF MEDICAL GENETICS

  Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations

• 1996 HUMAN MOLECULAR GENETICS

  Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy