GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

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 diffic...

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Bibliographic Details
Main Authors: Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-11-01
Series:Frontiers in Neurology
Subjects:
hereditary inclusion body myopathy
distal myopathy
GNE
genetics
muscle MRI
muscle pathology
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2018.00942/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2018.00942/full

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