Article
Thick filament diseases.
Advances in experimental medicine and biology - 1 Jan 2008
Oldfors Anders, Lamont Phillipa J
Abstract excerpt
Hereditary myosin myopathies are a newly emerged group of diseases caused by mutations in skeletal muscle myosin heavy chain (MyHC) genes. The phenotypes of these diseases are varied, ranging from prenatal nonprogressive arthrogrypotic syndromes to adult-onset progressive muscle weakness. They are caused by mutations in skeletal muscle myosin heavy chain (MyHC) genes. Mutations have been reported in two of three...
Topics
- Animals
- Biopsy
- Cell Shape
- Humans
- Muscle Fibers, Skeletal
- Muscular Diseases
- Mutation
- Myosin Heavy Chains
- Phenotype