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nemaline myopathy 7

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.
Uniprot Description A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.
Mondo Term and Equivalent IDs
MONDO:0012538:  nemaline myopathy 7
MESH:C565198: 
UMLS:C1853154: