Search Ontology:
Human Disease
nemaline myopathy 10
- Term ID
- DOID:0110931
- 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. https://www.ncbi.nlm.nih.gov/pubmed/25250574
- References
- Ontology
- Human Disease ( DOID:0110931 )
- is a type of
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Genes Involved
Zebrafish Models