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伴有脊柱侧弯的杆状体肌病:一例报告。

Nemaline myopathy with scoliosis: a case report.

作者信息

Huang Jin, Zhang Chen, Li Jing, Wang Huaming, Cui Xiaojuan, Wang Juan, Zhang Borong, Wang Xiaoqiang, Lin Deming, Zhao Jun, Wen Jiantao

机构信息

Gansu Provincial Hospital of Traditional Chinese Medicine, Lanzhou, Gansu, China.

出版信息

Front Pediatr. 2024 Oct 15;12:1413096. doi: 10.3389/fped.2024.1413096. eCollection 2024.

Abstract

Nemaline myopathy (NM) is a rare congenital muscle disease that leads to muscle damage, resulting in muscle weakness and atrophy. Cases of scoliosis induced by muscle weakness and atrophy are exceedingly uncommon. The author clinically treated one patient with NM complicated by scoliosis and analyzed its clinical characteristics through a literature review. The pathogenic genes of this patient originated from compound heterozygous mutations c.12471 + 3A>G from the mother and c.7727G>A from the father, leading to the diagnosis of NM accompanied by scoliosis, which represents a relatively rare clinical phenotype.

摘要

杆状体肌病(NM)是一种罕见的先天性肌肉疾病,会导致肌肉损伤,进而引起肌肉无力和萎缩。由肌肉无力和萎缩引发脊柱侧弯的病例极为罕见。作者对1例合并脊柱侧弯的杆状体肌病患者进行了临床治疗,并通过文献复习分析了其临床特征。该患者的致病基因分别来自母亲的复合杂合突变c.12471+3A>G和父亲的c.7727G>A,由此诊断为合并脊柱侧弯的杆状体肌病,这是一种相对罕见的临床表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77fb/11518715/b5c4c484db87/fped-12-1413096-g001.jpg

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