Nemaline Myopathy is a neuromuscular disorder characterized by muscle weakness and the presence of nemaline bodies or rods in affected muscle fibers. This disease is clinically diverse; affected individuals are classified into different subtypes according to the age of onset and the severity of the disease. NM is also genetically heterogeneous, with different inheritance patterns depending on the genes involved. Typical form of NM is most often caused by mutations in the nebulin (NEB) gene, with an autosomal recessive inheritance pattern, and it occurs at increased frequency among individuals of Ashkenazi Jewish descent. The carrier rate in the Ashkenazi Jewish population is 1 in 168. Ashkenazi Jewish individuals with a negative family history who test negative for the p.R2478_D2512del mutation in NEB have a revised carrier risk of 1 in 16,700.