Novel sarcoglycan gene mutations in a large cohort of Italian patients

J Med Genet. 2003 May;40(5):e67. doi: 10.1136/jmg.40.5.e67.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age of Onset
  • Base Sequence
  • Child
  • Child, Preschool
  • Cohort Studies
  • Cytoskeletal Proteins / analysis
  • Cytoskeletal Proteins / deficiency
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Dystroglycans
  • Female
  • Humans
  • Immunoblotting
  • Immunohistochemistry
  • Italy
  • Male
  • Mass Screening / methods*
  • Membrane Glycoproteins / analysis
  • Membrane Glycoproteins / deficiency
  • Membrane Glycoproteins / genetics*
  • Mutation / genetics*
  • Pedigree
  • Phenotype
  • Sarcoglycans

Substances

  • Cytoskeletal Proteins
  • DAG1 protein, human
  • Membrane Glycoproteins
  • Sarcoglycans
  • Dystroglycans

Associated data

  • OMIM/253700
  • OMIM/600119
  • OMIM/601287
  • OMIM/604286