Clinical，pathological and gene mutation characteristics of 18 cases of riboflavin-responsive lipid storage myopathy caused by ETFDH gene mutation
- VernacularTitle:ETFDH基因突变致核黄素反应性脂质沉积性肌病18例临床、病理和基因突变特点分析
- Author:
Qi QIAN
1
;
Wenhao CUI
1
;
Qianqian QU
1
Author Information
- Publication Type:Journal Article
- Keywords: lipid storage myopathy; ETFDH genes; Clinical characteristics; Muscle pathology
- From: Journal of Apoplexy and Nervous Diseases 2022;39(9):772-776
- CountryChina
- Language:Chinese
- Abstract: To investigate the clinical，pathological and ETFDH gene mutation characteristics of riboflavinresponsive lipid storage myopathy（RRLSM） caused by ETFDH gene mutation.Methods The clinical and pathological data of 18 RR-LSM patients who were admitted to our hospital from January 2009 to December 2020 and confirmed by muscle biopsy pathology and gene testing were retrospectively analyzed. The Illumina NovaSeq highthroughput sequencing of peripheral blood DNA was performed for data reading and bioinformatics analysis.Results Among the 18 patients，there were 9 males and 9 females. The age of onset ranged from 9 to 60 years old（mean 29.83±13.44 years）. The course of disease ranged from 1 month to 22 years（mean 4.5 years）. The main clinical manifestations were proximal limb weakness and movement intolerance，accompanied by cervical extensor weakness in 14 cases，masticatory muscle weakness in 9 cases，dysphagia in 5 cases，nausea and poor appetite in 5 cases，and muscle pain and dyspnea in a few patients. Muscle pathology showed a large amount of lipid deposition in muscle fibers and a small amount of muscle fiber necrosis in 5 cases. Immunohistochemical staining indicated that the necrotic muscle fibers were mainly infiltrated by CD68（+） lymphophagocytes. All 18 patients were treated with riboflavin and had good efficacy. ETFDH gene mutation was detected in all cases in this study，including 15 cases（83.3%） with complex heterozygous mutation，2 cases（11.1%） with single heterozygous mutation，and 1 case（5.6%） with homozygous mutation. A total of 20 mutation sites were found，among which the most frequent mutation site was c.770A>G，accounting for 19.4%（7/36） of the allele，followed by c.1454C>G，accounting for 8.3%（3/36） of the allele. Conclusion RRLSM patients caused by ETFDH gene mutation are characterized by trunk axial muscle and masticatory muscle involvement. Muscle pathology found that there are a large number of lipid deposits in muscle fibers is an important basis for diagnosis. c.770A>G and c.1454C>G are the most common mutation sites of ETFDH gene in this grou.
- Full text:2024072321464550864ETFDH基因突变致核黄素反应性脂质沉积性肌病18例临床、_病理和基因突变特点分析.pdf
