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nemaline myopathy 5

Go to external page http://purl.obolibrary.org/obo/DOID_0110936

A nemaline myopathy that has_material_basis_in homozygous mutation in the TNNT1 gene on chromosome 19q13. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

nemaline myopathy 5

Synonyms
  • ANM
  • Amish nemaline myopathy
  • NEM5
  • nemaline myopathy 5, Amish type
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disease_ontology

id

DOID:0110936