Prenatal diagnosis of limb-girdle muscular dystrophy type 2C

Prenat Diagn. 1998 Dec;18(12):1300-3. doi: 10.1002/(sici)1097-0223(199812)18:12<1300::aid-pd436>3.0.co;2-h.

Abstract

After studies which have mapped the gamma-sarcoglycan deficient limb-girdle muscular dystrophy (LGMD2C) to chromosome 13q12 and recent identification of mutations within this gene, prenatal diagnosis has become possible. The deletion of exon 5 in the gamma-sarcoglycan gene was found in a consanguineous family and prenatal diagnosis was successfully provided. This is the first prenatal diagnosis of LGMD2C.

Publication types

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

MeSH terms

  • Adult
  • Child
  • Chromosome Aberrations / diagnosis*
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, Pair 13 / genetics
  • Consanguinity
  • Cytoskeletal Proteins / analysis
  • Cytoskeletal Proteins / deficiency
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis
  • Dystrophin / analysis
  • Dystrophin / deficiency
  • Dystrophin / genetics*
  • Female
  • Humans
  • Male
  • Membrane Glycoproteins / analysis
  • Membrane Glycoproteins / deficiency
  • Membrane Glycoproteins / genetics*
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / embryology
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sarcoglycans

Substances

  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Glycoproteins
  • Sarcoglycans