Term Name: | nemaline myopathy 5B |
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Synonyms: | |
Definition: | A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. |
Ontology: | Human Disease [DOID:0080003] ( DOID:0080003 ) |