Article
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
Human molecular genetics - 1 Jul 1995
Bueno M R, Moreira E S, Vainzof M, Chamberlain J, Marie S K, Pereira L, Akiyama J, Roberds S L, Campbell K P, Zatz M
Abstract excerpt
Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a heterogeneous group of diseases with a wide spectrum of clinical variability, classified phenotypically into two main groups, the most severe forms (Duchenne-like muscular dystrophy, DLMD, or severe childhood autosomal rec...
Topics
- Base Sequence
- Brazil
- Chromosomes, Human, Pair 13
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 2
- Cytoskeletal Proteins
- Deoxyribonucleases, Type II Site-Specific
- Dystrophin
- Exons
- Family Health
- Female
- Genes, Recessive