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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 )
Relationships
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Genes Involved
Zebrafish Models