Hereditary myopathy with early respiratory failure without predominant respiratory insufficiency： A case report and literature review
10.19845/j.cnki.zfysjjbzz.2025.0088
- VernacularTitle:无明显呼吸功能不全的HMERF 1例报告并文献复习
- Author:
Ye HAN
1
;
Xuefan YU
1
Author Information
1. Department of Neurology，The First Hospital of Jilin University，Changchun 130021，China
- Publication Type:Journal Article
- Keywords:
Weak breathing;
Rimmed vacuole;
Distal weakness;
TTN gene
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(5):470-472
- CountryChina
- Language:Chinese
-
Abstract:
Hereditary myopathy with early respiratory failure is a titin （TTN）-related myopathy caused by mutations in the A-band of the TTN gene.This condition is characterized by distinctive clinical and pathological features， as well as a typical skeletal muscle involvement pattern. We report a 43-year-old male patient with progressive distal limb weakness over the past three years. The initial symptom was difficulty in lifting both feet， followed by difficulty in extending the dorsum of both hands one year later. However， the patient never experienced dyspnea. The patient's past medical history was unremarkable， and there was no family history of inherited diseases.His parents were healthy. Physical examination revealed wrist drop and noticeable atrophy of the tibialis anterior in both calves. Muscle strength in the lower limbs was graded at 4 for proximal muscles and 2 for distal muscles.Laboratory tests showed a creatine kinase level of 375U/L（normal range：50~310）. Electromyography revealed myogenic injury in the bilateral tibialis anterior and the right extensor digitorum communis. Magnetic resonance imaging of the muscles showed isolated involvement of the semitendinosus muscle with severe fatty infiltration， along with significant fatty degeneration of the anterior calf muscles. Muscle biopsy of the proband showed subsarcolemmal “necklace-like” cytoplasmic bodies and the “erasure” phenomenon on NADH enzyme histochemistry. Both electrocardiogram and echocardiography showed no abnormalities. Exome sequencing of the proband identified a missense mutation in the TTN gene， c.95358C>G， p.Asn31786Lys. Sanger sequencing confirmed that the mutation was absent in both parents of the proband， indicating a de novo mutation.
- Full text:2025071709270285854无明显呼吸功能不全的HMERF 1例报告并文献复习.pdf
