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nemaline myopathy 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 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 non-progressive or slowly progressive muscle weakness. Respiratory problems are common.
Mondo Term and Equivalent IDs
MONDO:0012240:  nemaline myopathy 4
MESH:C538351: 
UMLS:C1836447: