Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations

J Med Genet. 2003 Feb;40(2):E12. doi: 10.1136/jmg.40.2.e12.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Brazil
  • Child
  • Child, Preschool
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / metabolism
  • Dystroglycans
  • Dystrophin / genetics
  • Dystrophin / metabolism
  • Family Health
  • Female
  • Genotype
  • Humans
  • Immunohistochemistry
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / pathology
  • Mutation
  • Phenotype
  • Sarcoglycans

Substances

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