Term Name: | nemaline myopathy 5C |
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Synonyms: | |
Definition: | A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. |
Ontology: | Human Disease [DOID:0081375] ( DOID:0081375 ) |