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Human Disease

nemaline myopathy 7

Term ID
DOID:0110934
Synonyms
  • NEM7
  • nemaline myopathy 7, autosomal recessive
Definition
A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. (2)
References
Ontology
Human Disease   ( DOID:0110934 )
Relationships
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Genes Involved
Zebrafish Models