title: Prenatal diagnosis of limb-girdle muscular dystrophy type 2C.
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.
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey.
authors.forename: P
authors.initials: P
authors.lastname: Dinçer
authors.forename: F
authors.initials: F
authors.lastname: Piccolo
authors.forename: F
authors.initials: F
authors.lastname: Leturcq
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: M
authors.initials: M
authors.lastname: Jeanpierre
authors.forename: H
authors.initials: H
authors.lastname: Topaloğlu
mesh_terms: D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D003241:Consanguinity; D003598:Cytoskeletal Proteins / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans