FHL1 gene mutation related late-onset reducing body myopathy in a Chinese family
10.3760/cma.j.cn113694-20230916-00169
- VernacularTitle:FHL1基因变异致晚发型还原体肌病一家系报道
- Author:
Wenhao CUI
1
;
Qianqian QU
;
Xianzhao ZHENG
;
Xiaoli MA
;
Yaguang ZHOU
;
Shiyao LI
;
Jiongbo ZHAO
;
Haidong LYU
Author Information
1. 河南省焦作市人民医院神经内科，焦作 454002
- Keywords:
Reducing body myopathy;
FHL1 gene;
Pathology;
Magnetic resonance imaging;
Clinical characteristics
- From:
Chinese Journal of Neurology
2023;56(12):1349-1354
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the characteristics of clinical, muscle pathology and gene mutation of late-onset reducing body myopathy caused by FHL1 gene mutation, in order to improve clinicians′ understanding of this disorder. Methods:The clinical, muscle pathology and muscle magnetic resonance imaging data of the proband from a family diagnosed as reducing body myopathy in Jiaozuo People′s Hospital in December 2021 were collected. Genetic tests and pedigree verification were conducted on the proband and her son.Results:The proband was a 59-year-old female with progressive, asymmetrical limb weakness and muscular atrophy. Her mother, sister and brother had similar symptoms. Electromyography showed myogenic and neurogenic damage. Muscle magnetic resonance imaging indicated that the lesion mainly involved the posterior muscles of the thigh and calf, as well as the gluteus maximus. The muscle pathology showed eosinophilic granular inclusion bodies and rimmed vacuoles in the muscle fibers of the lesion. The structure of myofibrils was disordered and abnormal protein deposition was observed. The gene sequencing showed the FHL1 gene p.C150S heterozygous variation. Conclusions:Late-onset reducing body myopathy is characterized by progressive asymmetric proximal limb muscle weakness, partially involving distal limb muscles and gluteus maximus. Muscle pathology shows the characteristic pathological changes of many kinds of myofibrillar myopathies. FHL1 gene mutation is an important basis for diagnosis.
