Novel SPEG variant cause centronuclear myopathy in China
Novel SPEG variant cause centronuclear myopathy in China
复制标题
新的SPEG变异在中国引起中心核肌病
DOI：
10.1002/jcla.23054
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发表时间：
2019-10-18
影响因子：
2.7
通讯作者：
Luo, Liangping
中科院分区：
文献类型：
--
作者：
Tang, Jia;Ma, Wei;Luo, Liangping
中核性肌病（CNM）是先天性肌病（CM）的一种亚型，是一组临床和遗传异质性的肌肉疾病。核中性肌病是一种因其遗传多样性而难以诊断的疾病。自从发现SPEG基因和致病变异以来，只有少数额外的患者被报道。
Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Centronuclear myopathy is a kind of disease difficult to diagnose due to its genetic diversity. Since the discovery of the SPEG gene and disease‐causing variants, only a few additional patients have been reported.