Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.

Kaiyan JiangYilei ZhengJing LinXiaorong WuYanyan YuMin ZhuXin FangMeihong ZhouXiaobing LiDao-Jun Hong

Published in: Brain and behavior (2022)

Most patients with GFPT1-related CMS had tubular aggregates in the muscle biopsy, but some patients could show great diversities of the pathological change. The myopathological findings might be a biomarker to predict the prognosis of the disease.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
skeletal muscle
peritoneal dialysis
patient reported