Article
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
Journal of medical genetics - 1 Nov 1998
Moreira E S, Vainzof M, Marie S K, Nigro V, Zatz M, Passos-Bueno M R
Abstract excerpt
Among the heterogeneous group of autosomal recessive limb-girdle muscular dystrophies (AR LGMDs), the sarcoglycanopathies (LGMD2C-2F) represent a subgroup characterised by defects in the gamma, alpha, beta, and delta sarcoglycan genes, respectively. Genotype-phenotype correlations in these forms...
Topics
- Brazil
- Chromosomes, Human, Pair 5
- Cytoskeletal Proteins
- Female
- Frameshift Mutation
- Humans
- Male
- Membrane Glycoproteins
- Muscular Dystrophies
- Mutation, Missense
- Pedigree