The nemaline myopathies are neuromuscular disorders characterized by muscle weakness and rod-shaped "nemaline" inclusions in skeletal muscle fibers. Nemaline myopathy 5, also known as Amish nemaline myopathy is an autosomal recessive disorder common among the Old Order Amish. The c.538G>T (p.Glu180*) variant in exon 11 of the TNNT1 gene is the most frequent pathogenic variant found in the Amish population. This test will specifically analyze the c.538G>T variant.
1 - 2 weeks