Article
Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.
Human molecular genetics - 5 Jun 2024
Fabian Lacramioara, Karimi Esmat, Farman Gerrie P, Gohlke Jochen, Ottenheijm Coen A C, Granzier Hendrikus L, Dowling James J
Abstract excerpt
Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterized by muscle weakness and hypotonia, slow gross motor development, and decreased respiratory function. Mutations in at least twelve genes, all of each encode proteins that are either components of the muscle thin filament or regulate its length and stability, have been associated with NM. Mutations in Nebulin (NEB), a giant filamentous...
Topics
- Animals
- Alleles
- Disease Models, Animal
- Muscle Proteins
- Muscle, Skeletal
- Mutation
- Myopathies, Nemaline
- Phenotype
- Sarcomeres
- Zebrafish
- Zebrafish Proteins