Gene analysis and clinical features of 22 GNE myopathy patients

[1] Nishino I(2015)GNE myopathy: current update and future therapy J Neurol Neurosurg Psychiatry 86 385-392

[2] Carrillo-Carrasco N(2018)GNE myopathy: etiology, diagnosis, and therapeutic challenges Neurotherapeutics 15 900-914

[3] Argov Z(1981)Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation J Neurol Sci 51 141-155

[4] Carrillo N(1984)“Rimmed vacuole myopathy” sparing the quadriceps. A unique disorder in Iranian Jews J Neurol Sci 64 33-43

[5] Malicdan MC(2012)Muscle imaging findings in GNE myopathy J Neurol 259 1358-1365

[6] Huizing M(2021)Skeletal muscle magnetic resonance biomarkers in GNE myopathy Neurology 96 e798-e808

[7] Nonaka I(2018)GNE myopathy: from clinics and genetics to pathology and research strategies Orphanet J Rare Dis 13 70-81

[8] Sunohara N(2012)Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations J Neurol Sci 321 77-1067

[9] Ishiura S(2014)Atypical presentation of GNE myopathy with asymmetric hand weakness Neuromuscul Disord 24 1063-1858

[10] Argov Z(2018)Mutation in GNE is associated with a severe form of congenital thrombocytopenia Blood 132 1855-59

[1] Nishino I(2015)GNE myopathy: current update and future therapy J Neurol Neurosurg Psychiatry 86 385-392

[2] Carrillo-Carrasco N(2018)GNE myopathy: etiology, diagnosis, and therapeutic challenges Neurotherapeutics 15 900-914

[3] Argov Z(1981)Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation J Neurol Sci 51 141-155

[4] Carrillo N(1984)“Rimmed vacuole myopathy” sparing the quadriceps. A unique disorder in Iranian Jews J Neurol Sci 64 33-43

[5] Malicdan MC(2012)Muscle imaging findings in GNE myopathy J Neurol 259 1358-1365

[6] Huizing M(2021)Skeletal muscle magnetic resonance biomarkers in GNE myopathy Neurology 96 e798-e808

[7] Nonaka I(2018)GNE myopathy: from clinics and genetics to pathology and research strategies Orphanet J Rare Dis 13 70-81

[8] Sunohara N(2012)Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations J Neurol Sci 321 77-1067

[9] Ishiura S(2014)Atypical presentation of GNE myopathy with asymmetric hand weakness Neuromuscul Disord 24 1063-1858

[10] Argov Z(2018)Mutation in GNE is associated with a severe form of congenital thrombocytopenia Blood 132 1855-59