| Metadata | |
|---|---|
| ID | DOID:0110931 |
| Name | nemaline myopathy 10 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/25250574 |
| Xrefs | |
| Synonyms |
congenital myopathy 10 [EXACT] NEM10 [EXACT] |
| Parent Relationships |
is_a nemaline myopathy |