OBO ID: DOID:0110936
Term Name: nemaline myopathy 5A Search Ontology:
Synonyms:
  • Amish nemaline myopathy
  • ANM
  • NEM5
  • nemaline myopathy 5, Amish type
Definition: A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. https://www.ncbi.nlm.nih.gov/pubmed/10952871
References:
Ontology: Human Disease   ( DOID:0110936 )
OTHER nemaline myopathy 5A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TNNT1 Nemaline myopathy 5A, autosomal recessive, severe infantile 605355
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)