Journal article
Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy
Abstract
BACKGROUND: GNE myopathy is a rare, autosomal recessive, muscle disease caused by mutations in GNE and is characterized by rimmed vacuoles on muscle biopsy and progressive distal to proximal muscle weakness.
OBJECTIVE: Investigate the clinical presentation and progression of GNE myopathy.
Authors
Lochmüller H; Behin A; Tournev I; Tarnopolsky M; Horváth R; Pogoryelova O; Shah J; Koutsoukos T; Skrinar A; Kakkis E
Journal
Journal of Neuromuscular Diseases, Vol. 8, No. 2, pp. 225–234
Publisher
SAGE Publications
Publication Date
2021
DOI
10.3233/jnd-200565
ISSN
2214-3599