Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.

ABSTRACT: Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible for approximately 50% of nemaline myopathy cases. Despite the severity of the disease there is no effective treatment for nemaline myopathy with limited research to develop potential therapies. Several supplements, including L-tyrosine, have been suggested to be beneficial and consequently self-administered by nemaline myopathy patients without any knowledge of their efficacy. We have characterized a zebrafish model for nemaline myopathy caused by a mutation in nebulin. These fish form electron-dense nemaline bodies and display reduced musc

SUBMITTER: Sztal TE 

PROVIDER: S-EPMC5977763 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature