Definition: A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Other names Nemaline Myopathies; Myopathy, Rod-Body; Myopathy, Rod; Myopathy, Nemaline; Rod-Body Myopathies; Rod Myopathies; Rod Body Myopathy; Nemaline Myopathy; Myopathy, Rod Body; Myopathies, Rod-Body; Myopathies, Rod; Rod-Body Myopathy; Rod Myopathy; Nemaline Myopathy, Childhood Onset; Nemaline Myopathy, Autosomal Recessive; Nemaline Myopathy, Late Onset; Nemaline Myopathy, Autosomal Dominant; Nemaline Myopathy, Adult Onset; Late Onset Nemaline Myopathy; Childhood Onset Nemaline Myopathy
