Article
Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.
Disease models & mechanisms - 1 May 2012
Telfer William R, Nelson Darcee D, Waugh Trent, Brooks Susan V, Dowling James J
Abstract excerpt
Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood. Patients typically present in infancy with hypotonia, weakness, delayed motor development, and bulbar and respiratory difficulties. Mutations in six different genes are associated with nemaline myopathy, with nebulin mutations being the most common. No treatments or disease-modifying therapies have been identified...
Topics
- Actin Cytoskeleton
- Amino Acid Sequence
- Animals
- Disease Models, Animal
- Embryo, Nonmammalian
- Humans
- Larva
- Molecular Sequence Data
- Motor Activity
- Muscle Contraction
- Muscle Proteins
- Muscle, Skeletal
- Mutation
- Myopathies, Nemaline
- Phenotype