Article
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Journal of medical genetics - 1 Jun 1997
Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat J M, Merlini L, Voit T, Sewry C, Urtizberea J A, Romero N, Tomé F M, Fardeau M, Sunada Y, Campbell K P, Kaplan J C, Jeanpierre M
Abstract excerpt
Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive muscular dystrophies in which the primary defect may reside in any of the genes coding for the different partners of the sarcolemmal sarcoglycan (SG) complex: the alpha-SG (LGMD2D at 17q21.2), the beta-SG (LGMD2E at...
Topics
- Base Sequence
- Cytoskeletal Proteins
- DNA Mutational Analysis
- DNA Primers
- Exons
- Female
- Genes, Recessive
- Genotype
- Heterozygote
- Homozygote
- Humans
- Male
- Membrane Glycoproteins
- Molecular Sequence Data