Metadata | |
---|---|
ID | DOID:0110936 |
Name | nemaline myopathy 5A |
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 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Amish nemaline myopathy [EXACT] ANM [EXACT] NEM5 [EXACT] nemaline myopathy 5, Amish type [EXACT] |
Parent Relationships |
is_a nemaline myopathy |