脊柱侧弯的线粒体肌病:病例报告。

IF 2.1 3区 医学 Q2 PEDIATRICS Frontiers in Pediatrics Pub Date : 2024-10-15 eCollection Date: 2024-01-01 DOI:10.3389/fped.2024.1413096
Jin Huang, Chen Zhang, Jing Li, Huaming Wang, Xiaojuan Cui, Juan Wang, Borong Zhang, Xiaoqiang Wang, Deming Lin, Jun Zhao, Jiantao Wen
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引用次数: 0

摘要

线粒体肌病(NM)是一种罕见的先天性肌肉疾病,会导致肌肉损伤,造成肌肉无力和萎缩。因肌肉无力和萎缩而诱发脊柱侧弯的病例极为罕见。作者临床治疗了一名并发脊柱侧弯的 NM 患者,并通过文献回顾分析了其临床特征。该患者的致病基因来源于母亲的c.12471 + 3A>G和父亲的c.7727G>A复合杂合突变,因此被诊断为NM伴脊柱侧弯,这是一种较为罕见的临床表型。
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Nemaline myopathy with scoliosis: a case report.

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.

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来源期刊
Frontiers in Pediatrics
Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health
CiteScore
3.60
自引率
7.70%
发文量
2132
审稿时长
14 weeks
期刊介绍: Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.
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