nemaline myopathy 5A

Term ID

DOID:0110936

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

• GARD:8334
• MESH:C538397
• OMIM:605355
• ORDO:98902

Ontology

Human Disease   ( DOID:0110936 )