Mondo Description Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene.

Uniprot Description A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and slowly progressive muscle weakness. Respiratory problems are common.