Clinical and myopathological features and genetic mutations of GNE myopathy / 中华神经医学杂志

ABSTRACT

Objective To investigate clinical and myopathological features and genetic mutations of GNE myopathy.Methods The clinical manifestations and pathological findings of 4 patients were reviewed who had been treated for GNE myopathy at Department of Neurology,The People's Hospital of Zhengzhou University from January 2016 to July 2017.The exons of GNE gene were sequenced to detect gene mutations in all of them.Results Onset of the disease started at late adolescence or early adulthood in the 4 patients (2 siblings).Gait disturbance appeared as an initial symptom.The disease progressed slowly and the distal muscles were more affected than the proximal ones.Muscle magnetic resonance imaging revealed that the soleus and the anterolateral muscles of the lower leg were the most severely involved and the internal and posterior compartments of the thigh muscles were more involved than the anterior one.The characteristic pathological finding was presence of rimmed vacuoles.Two siblings (Patients 1 and 2) both had the same compound heterozygous mutations of p.G395R and p.D207V,patient 3 had the compound heterozygous mutations of p.D207V and p.G166D,and patient 4 had the homozygous mutation ofp.G237D.Conclusions Sparing of the quadriceps relatively is a very unique feature of GNE myopathy.Missense mutations (G395R and G237D) may be 2 new ones in the GNE gene.