MYH7 gene-related scapuloperoneal myosin storage myopathy: a case report
10.3760/cma.j.cn113694-20250723-00429
- VernacularTitle:MYH7基因相关肩腓型肌球蛋白贮积肌病1例报道
- Author:
Qingyue YUAN
1
;
Zhenyu LI
;
Zhiying XIE
;
Meng YU
;
Zhaoxia WANG
;
Wei ZHANG
;
Yun YUAN
Author Information
1. 北京大学第一医院神经内科，北京100034
- Publication Type:Journal Article
- Keywords:
Muscle weakness;
Scapuloperoneal muscle weakness;
MYH7 gene;
Myosin storage myopathy;
Vacuolar myopathy;
Case reports
- From:
Chinese Journal of Neurology
2025;58(12):1277-1281
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report the clinical, imaging, and pathological features of a case of MYH7 gene-related scapuloperoneal myosin storage myopathy. Methods:Clinical data were collected from a patient with MYH7 gene-related scapuloperoneal myosin storage myopathy who presented to Peking University First Hospital in February 2025. The patient was evaluated with muscle magnetic resonance imaging, muscle biopsy, and whole-exome sequencing. Results:The patient was a 52-year-old female, with a 12-year history of progressive difficulty in foot dorsiflexion, exercise-induced fatigue, and lower limb pain. Over the past 3 years, she developed proximal upper limb weakness and post-exertional myalgia. Physical examination revealed scapuloperoneal weakness distribution accompanied by sensorineural hearing loss. Electromyography demonstrated myogenic changes in the deltoid and tibialis anterior muscles. Serum creatine kinase levels were within normal limits. Lower limb magnetic resonance imaging showed mild atrophy of the thigh muscles and significant fatty infiltration in the tibialis anterior, extensor hallucis longus, and extensor digitorum longus. Tibialis anterior muscle biopsy revealed dystrophic-like changes with sub-sarcolemmal hyaline bodies containing abundant granulofilamentous material. Whole exome sequencing identified a heterozygous pathogenic variant of c.5352_5354del(p.K1784del) in the MYH7 gene. Conclusions:This patient is the first reported one in China with MYH7 gene-related scapuloperoneal myosin storage myopathy, exhibiting characteristic scapuloperoneal weakness, selective fatty infiltration of the anterior lower leg muscles on imaging and sub-sarcolemmal hyaline body pathological changes. The diagnosis of this disease relies on characteristic pathological findings and genetic test results.
