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: P Dinçer, F Piccolo, F Leturcq, J C Kaplan, M Jeanpierre, H Topaloğlu
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 18 Issue 12 Pg. 1300-3 (Dec 1998) ISSN: 0197-3851 [Print] 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