Open AccessResults from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy
Author(s) -
Hanns Lochmüller,
Anthony Béhin,
Ivailo Tournev,
Mark A. Tarnopolsky,
Rita Horváth,
Oksana Pogoryelova,
Jash Shah,
Tony Koutsoukos,
Alison Skrinar,
Emil Kakkis,
Camille L. Bedrosian,
Tahseen Mozaffar
Publication year - 2021
Publication title -
journal of neuromuscular diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.366
H-Index - 23
eISSN - 2214-3602
pISSN - 2214-3599
DOI - 10.3233/jnd-200565
Subject(s) - medicine , myopathy , muscle biopsy , observational study , weakness , inflammatory myopathy , physical therapy , muscle weakness , biopsy , surgery
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.