AUTHOR=Soule Tyler , Phan Cecile , White Chris , Resch Lothar , Lacson Atilano , Martens Kristina , Pfeffer Gerald TITLE=GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy JOURNAL=Frontiers in Neurology VOLUME=9 YEAR=2018 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2018.00942 DOI=10.3389/fneur.2018.00942 ISSN=1664-2295 ABSTRACT=

GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist. A large number of mutations in GNE 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 GNE, 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.