中国当代儿科杂志2025，Vol.27Issue(9)：1071-1075,5.DOI:10.7499/j.issn.1008-8830.2501068
MTM1基因变异致5例新生儿中央核肌病的临床及遗传学分析
Clinical and genetic features of 5 neonates with centronuclear myopathy caused by MTM1 gene variation
谢添 1葛佳静 1张子明 1吴鼎文 2许燕萍 1施丽萍 1马晓路 1陈正1
作者信息
- 1. 浙江大学医学院附属儿童医院新生儿重症监护室/国家儿童健康与疾病临床医学研究中心,浙江 杭州 310052
- 2. 浙江大学医学院附属儿童医院遗传与代谢科/国家儿童健康与疾病临床医学研究中心,浙江 杭州 310052
- 折叠
摘要
Abstract
Objective To study clinical manifestations and gene mutation features of neonates with centronuclear myopathy.Methods A retrospective analysis was conducted on the medical data of 5 neonates with centronuclear myopathy diagnosed in the Neonatal Intensive Care Unit of Children's Hospital,Zhejiang University School of Medicine from January 2020 to August 2024.The data included gender,gestational age,birth weight,Apgar score,clinical manifestations,creatine kinase level,electromyography,genetic testing results and the outcomes of the infants.Results All 5 male neonates had a history of postpartum asphyxia and resuscitation.They all presented with hypotonia,myasthenia,and respiratory failure;two neonates also had swallowing dysfunction.Of the five neonates,three had normal creatine kinase levels,while two had slightly elevated levels.Electromyography was performed for three neonates,among whom two had myogenic damage.MTM1 gene mutations were identified by genetic testing in all five neonates,including two nonsense mutations and three missense mutations,among which one variant had not been previously reported.Four mutations were inherited from the mother,and the other one was a de novo mutation.The five neonates showed no clinical improvement following treatment,failed weaning from mechanical ventilation,and ultimately died after withdrawal of life-sustaining therapy.Conclusions Centronuclear myopathy caused by MTM1 gene mutation often has a severe phenotype and a poor prognosis,and it should be considered for neonates with hypotonia and myasthenia after birth.Genetic testing should be performed as soon as possible.关键词
中央核肌病/MTM1基因/新生儿Key words
Centronuclear myopathy/MTM1 gene/Neonate引用本文复制引用
谢添,葛佳静,张子明,吴鼎文,许燕萍,施丽萍,马晓路,陈正..MTM1基因变异致5例新生儿中央核肌病的临床及遗传学分析[J].中国当代儿科杂志,2025,27(9):1071-1075,5.
