Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
J Cell Mol Med. 2022 Jul;26(14):3828-3836. doi: 10.1111/jcmm.17417. Epub 2022 Jun 6.
Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited disorders affecting nerve transmission across the neuromuscular junction. The aim of this study was to characterize the clinical, physiological, pathohistological and genetic features of nine unrelated Chinese patients with CMS from a single neuromuscular centre. A total of nine patients aged from neonates to 34 years were enrolled who exhibited initial symptoms. Physical examinations revealed that all patients exhibited muscle weakness. Muscle biopsies demonstrated multiple myopathological changes, including increased fibre size variation, myofibrillar network disarray, necrosis, myofiber grouping, regeneration, fibre atrophy and angular fibres. Genetic testing revealed six different mutated genes, including AGRN (2/9), CHRNE (1/9), GFPT1 (1/9), GMPPB (1/9), PLEC (3/9) and SCN4A (1/9). In addition, patients exhibited differential responses to pharmacological treatment. Prompt utilization of genetic testing will identify novel variants and expand our understanding of the phenotype of this rare syndrome. Our findings contribute to the clinical, pathohistological and genetic spectrum of congenital myasthenic syndrome in China.
先天性肌无力综合征（CMS）包括一组异质性遗传性疾病，影响神经肌肉接头的神经传递。本研究旨在描述来自单一神经肌肉中心的 9 例无关联的中国 CMS 患者的临床、生理、病理和遗传特征。共纳入 9 例年龄从新生儿至 34 岁的患者，这些患者均出现首发症状。体格检查显示所有患者均存在肌肉无力。肌肉活检显示多种肌病理改变，包括纤维大小变异增加、肌原纤维网络紊乱、坏死、肌纤维成组、再生、纤维萎缩和角纤维。基因检测显示 6 个不同的突变基因，包括 AGRN（2/9）、CHRNE（1/9）、GFPT1（1/9）、GMPPB（1/9）、PLEC（3/9）和 SCN4A（1/9）。此外，患者对药物治疗有不同的反应。及时进行基因检测将识别新的变异，并扩大我们对这种罕见综合征表型的认识。我们的发现有助于了解中国先天性肌无力综合征的临床、病理和遗传谱。
