Prenatal diagnosis of limb-girdle muscular dystrophy type 2C.
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.
Dinçer
P
P
Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey.
Piccolo
F
F
Leturcq
F
F
Kaplan
J C
JC
Jeanpierre
M
M
Topaloğlu
H
H
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
D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans