Article
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
Journal of medical genetics - 1 Feb 1996
Passos-Bueno M R, Moreira E S, Marie S K, Bashir R, Vasquez L, Love D R, Vainzof M, Iughetti P, Oliveira J R, Bakker E, Strachan T, Bushby K, Zatz M
Abstract excerpt
Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a group of muscle diseases with a wide spectrum of clinical signs, varying from very severe to mild. Four different loci that when mutated cause the AR LGMD phenotype have been mapped or cloned or both: in two of them the li...
Topics
- Adolescent
- Adult
- Brazil
- Calpain
- Child
- Child, Preschool
- Chromosomes, Human, Pair 13
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 2
- Consanguinity
- Cytoskeletal Proteins
- Female
- Genes, Recessive