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Nemaline myopathy (NM) is a disorder characterized by muscle weakness, depressed/absent deep tendon reflexes and the presence of rod-shaped structures in muscle cells. Clinical expression is variable and ranges from congenital muscle weakness and hypotonia to mild skeletal myopathy of childhood or adult onset. The distribution of weakness is typically proximal, with variable involvement of the facial, bulbar, and respiratory muscles. Many affected infants have feeding difficulties and about 25-40% of infants with congenital NM die, often from respiratory failure. In those who survive the first few years or those with late onset of symptoms, muscle weakness often stabilizes or is slowly progressive. Few patients display a cardiac phenotype. The majority of patients with a mutation in the NEB gene have the typical congenital form of NM. The NEB gene encodes the nebulin protein, which is a component of the skeletal muscle. Creatine kinase levels in NM are normal to mildly elevated. The incidence of NM is 1:50,000 live births, although it is higher in patients with Ashkenazi Jewish ancestry, due to a founder mutation in the NEB gene.