[Childhood reducing body myopathy caused by FHL1 gene variation in a child]

C J Wei; Z X Wang; X Z Chang; J L Lyu; L Ge; Y B Fan; Y H Zhang; H Xiong

doi:10.3760/cma.j.issn.0578-1310.2020.02.016

[Childhood reducing body myopathy caused by FHL1 gene variation in a child]

Zhonghua Er Ke Za Zhi. 2020 Feb 2;58(2):147-149. doi: 10.3760/cma.j.issn.0578-1310.2020.02.016.

[Article in Chinese]

Authors

C J Wei¹, Z X Wang², X Z Chang¹, J L Lyu³, L Ge¹, Y B Fan¹, Y H Zhang¹, H Xiong¹

Affiliations

¹ Department of Pediatrics, Peking University First Hospital, Beijing100034, China.
² Department of Neurology, Peking University First Hospital, Beijing 100034, China.
³ Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

PMID: 32102154
DOI: 10.3760/cma.j.issn.0578-1310.2020.02.016

Abstract

患儿女，9岁，因"肢体无力2年3个月余，加重7个月"就诊。临床表现为逐渐进展的不对称性肌无力，病初因存在部分类似肌炎的表现而误诊为炎症性肌病，后根据免疫治疗反应欠佳考虑为遗传性肌病。基因检测发现FHL1基因c.311G>A，p.C104T，为已知杂合新生致病性变异，进一步对肌肉组织行甲萘醌-硝基四氮唑盐染色，发现胞质内蓝紫色包涵体，最终确诊还原体肌病。.

Publication types

Case Reports

MeSH terms

Child
Genetic Diseases, X-Linked / genetics*
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Intracellular Signaling Peptides and Proteins / metabolism
LIM Domain Proteins / genetics*
Muscle Proteins / genetics*
Muscle Proteins / metabolism
Muscle, Skeletal / metabolism
Muscle, Skeletal / pathology*
Muscular Diseases / genetics*
Muscular Diseases / metabolism
Muscular Diseases / pathology
Mutation, Missense

Substances

FHL1 protein, human
Intracellular Signaling Peptides and Proteins
LIM Domain Proteins
Muscle Proteins