Congenital myasthenic syndrome in China: genetic and myopathological characterization.
Congenital myasthenic syndrome in China: genetic and myopathological characterization.
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DOI：
10.1002/acn3.51346
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发表时间：
2021-04
影响因子：
5.3
通讯作者：
Yuan Y
中科院分区：
文献类型：
--
作者：
Zhao Y;Li Y;Bian Y;Yao S;Liu P;Yu M;Zhang W;Wang Z;Yuan Y
我们的目的是总结一组中国先天性肌无力综合征患者的临床、遗传和肌肉病理学特征，并随访治疗结果。总结了先天性肌无力综合征各亚型患者的临床谱、基因突变频率及病理诊断线索。随访治疗效果。招募了来自29个家庭的35名患者。鉴定了10个基因：GFPT 1（27.6%）、AGRN（17.2%）、CHRNE（17.2%）、COLQ（13.8%）、GMPPB（6.9%）、CHAT、CHRNA 1、DOK 7、COG 7和SLC 25 A1（分别为3.4%）。在AGRN（1/8）和GFPT 1（7/8）突变患者中发现了足底肢带无力，而在AGRN（6/8）突变患者中均观察到远端无力。仅在GFPT 1突变患者中发现肾小管聚集体（5/6）。GMPPB突变患者（2/2）的α-肌营养不良聚糖减少。乙酰胆碱酯酶抑制剂治疗导致COLQ突变患者无反应或症状恶化，AGRN突变患者反应多样，其他亚型患者反应良好。沙丁胺醇治疗在大多数亚型中有效或无害。在COLQ或AGRN突变患者中长期使用，治疗效果减弱。中国先天性肌无力综合征的遗传分布与其他民族不同。远端无力、选择性肢带肌无力综合征、肾小管聚集和α-肌营养不良聚糖减少的出现表明了特定亚型。根据随访结果，我们建议谨慎评估先天性肌无力综合征治疗药物的长期疗效。
We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes. The clinical spectrum, mutational frequency of genes, and pathological diagnostic clues of various subtypes of patients with congenital myasthenic syndrome were summarized. Therapeutic effects were followed up. Thirty‐five patients from 29 families were recruited. Ten genes were identified: GFPT1 (27.6%), AGRN (17.2%), CHRNE (17.2%), COLQ (13.8%), GMPPB (6.9%), CHAT, CHRNA1, DOK7, COG7, and SLC25A1 (3.4% each, respectively). Sole limb‐girdle weakness was found in patients with AGRN (1/8) and GFPT1 (7/8) mutations, whereas distal weakness was all observed in patients with AGRN (6/8) mutations. Tubular aggregates were only found in patients with GFPT1 mutations (5/6). The patients with GMPPB mutations (2/2) had decreased alpha‐dystroglycan. Acetylcholinesterase inhibitor therapy resulted in no response or worsened symptoms in patients with COLQ mutations, a diverse response in patients with AGRN mutations, and a good response in patients with other subtypes. Albuterol therapy was effective or harmless in most subtypes. Therapy effects became attenuated with long‐term use in patients with COLQ or AGRN mutations. The genetic distribution of congenital myasthenic syndrome in China is distinct from that of other ethnic origins. The appearance of distal weakness, selective limb‐girdle myasthenic syndrome, tubular aggregates, and decreased alpha‐dystroglycan were indicative of the specific subtypes. Based on the follow‐up findings, we suggest cautious evaluation of the long‐term efficacy of therapeutic agents in congenital myasthenic syndrome.
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DOI：
10.1016/j.nmd.2016.11.014
发表时间：
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期刊：
Neuromuscular disorders : NMD
影响因子：
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