Article
Untangling the complexity of limb-girdle muscular dystrophies.
Muscle & nerve - 1 Aug 2018
Liewluck Teerin, Milone Margherita
Abstract excerpt
The limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with a childhood to adult onset, manifesting with hip- and shoulder-girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants...
Topics
- Databases, Genetic
- Humans
- Muscle, Skeletal
- Muscular Dystrophies, Limb-Girdle
- Phenotype
