Article
[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases].
Revista de neurologia - 1 Jun 1998
García-García D, Teijeira-Bautista S, Fernández-Rodríguez J M, Flores-Calvete J, Sánchez-Espíldora P, Fernández-Couto D, Cimas-Hernando I, Teijeiro-Ferreira A, Fernández-Hojas R, Brasa-Fernández Fierros J, Martínez de Alegría A, Escribano-Arias J L, Núñez-Delgado M, Navarro-Fernández Balbuena C
Abstract excerpt
INTRODUCTION: Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12, has been described recently and...
Topics
- Adolescent
- Adult
- Biopsy
- Child
- Child, Preschool
- Chromosomes, Human, Pair 13
- Consanguinity
- Cytoskeletal Proteins
- Dystrophin
- Electromyography
- Female
- Genes, Recessive
- Genotype
- Humans