Term Name: | nemaline myopathy 5A |
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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. |
Ontology: | Human Disease [DOID:0110936] ( DOID:0110936 ) |