Term Name: | nemaline myopathy 10 |
---|---|
Synonyms: | congenital myopathy 10, NEM10 |
Definition: | A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. |
Ontology: | Human Disease [DOID:0110931] ( DOID:0110931 ) |