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- W2472528529 abstract "Objective To describe clinical,neurophysiological and pathological features in 2 patients with glutamine-fructose-6-phosphate transaminase 1 (GFPT1)-related limb-girdle congenital myasthenic syndrome.Methods We recruited two patients diagnosed as GFPT1-related limb-girdle congenital myasthenic syndrome in Peking University First Hospital in March and June 2014 respectively.Then we collected clinical,laboratory,neurophysiological,neuropathological and genetic data of the 2 patients to characterize the disease features.We also followed up the two patients to evaluate therapeutic effects.Results Case 1 was a sixteen years old boy complaining of exercise related fatigue for 10 years.Case 2 was a nine years old boy complaining of exercise related fatigue for 6 years.Both patients revealed mild proximal weakness during physical examinations.The level of serum creatine kinase was 224 IU/L in case 1 and within normal range in case 2.Repetitive nerve stimulation with 3 Hz at axillary nerve revealed decremental response of the main compound muscle action potential amplitude,which was 46.9％ in case 1 and 17.5％ in case 2.Anti-acetylcholine receptor antibody was not detected in both cases.Both of them responded well to oral pyridostigmine bromide.Muscle biopsies and GFPT1 gene analysis were performed in 2 cases.Muscle biopsy revealed massive tubular aggregates within muscle fibers in case 1 and type 1 fiber predoninance in case 2.GFPT1 showed 2 compound heterozygous mutations in patient 1 with p.Y367C and p.G564C,and in patient 2 with p.G26S and p.V291I respectively.Conclusions Childhood onset,fluctuating limb girdle weakness,decrement on low frequency repetitive nerve stimulation,tubular aggregates on muscle pathology could be considered as the diagnostic clues for GFPT1-related limb-girdle congenital myasthenic syndrome.Cholinesterase inhibitors therapy could be used as the first choice in this disease." @default.
- W2472528529 created "2016-07-22" @default.
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- W2472528529 date "2015-08-03" @default.
- W2472528529 modified "2023-09-23" @default.
- W2472528529 title "谷氨酰胺-果糖-6-磷酸转氨酶1相关性肢带型先天性肌无力综合征二例临床分析" @default.
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