Ontology highlight
ABSTRACT:
SUBMITTER: Casey JG
PROVIDER: S-EPMC10162428 | biostudies-literature | 2023 May
REPOSITORIES: biostudies-literature
Casey Jennifer G JG Kim Euri S ES Joseph Remi R Li Frank F Granzier Henk H Gupta Vandana A VA
Human molecular genetics 20230501 10
Nemaline myopathy (NM) is a rare neuromuscular disorder associated with congenital or childhood-onset of skeletal muscle weakness and hypotonia, which results in limited motor function. NM is a genetic disorder and mutations in 12 genes are known to contribute to autosomal dominant or recessive forms of the disease. Recessive mutations in nebulin (NEB) are the most common cause of NM affecting about 50% of patients. Because of the large size of the NEB gene and lack of mutational hot spots, deve ...[more]