| 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 | P Dinçer, F Piccolo, F Leturcq, J C Kaplan, M Jeanpierre, H Topaloğlu
(Affiliation: Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey.)
|
| Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 18
Issue 12
Pg. 1300-3
(Dec 1998)
ISSN: 0197-3851 ENGLAND |
| PMID | 9885023
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
| Chemical References |
- Cytoskeletal Proteins
- Dystrophin
- Membrane Glycoproteins
- Sarcoglycans
|
| Topics |
- Adult
- Child
- Chromosome Aberrations
(diagnosis, genetics)
- Chromosome Disorders
- Chromosomes, Human, Pair 13
(genetics)
- Consanguinity
- Cytoskeletal Proteins
(analysis, deficiency, genetics)
- DNA Mutational Analysis
- Dystrophin
(analysis, deficiency, genetics)
- Female
- Humans
- Male
- Membrane Glycoproteins
(analysis, deficiency, genetics)
- Muscle, Skeletal
(chemistry, pathology)
- Muscular Dystrophies
(diagnosis, embryology, genetics)
- Pedigree
- Pregnancy
- Prenatal Diagnosis
- Reverse Transcriptase Polymerase Chain Reaction
- Sarcoglycans
|
