GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.

GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in . Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist. A large number of mutations in are pathogenic and this clinical phenotype can be difficult to differentiate clinically from other late-onset myopathies. We describe two families with novel mutations in , and describe their clinical and MRI features. We also describe the presence of striking paraspinal muscle involvement on MRI of the lumbar spine, which is an under-recognized feature of GNE myopathy.