中风与神经疾病杂志2025，Vol.42Issue(5)：470-472,3.DOI:10.19845/j.cnki.zfysjjbzz.2025.0088
无明显呼吸功能不全的HMERF 1例报告并文献复习
Hereditary myopathy with early respiratory failure without predominant respiratory insufficiency:A case report and literature review
摘要
Abstract
Hereditary myopathy with early respiratory failure is a titin(TTN)-related myopathy caused by muta-tions 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 de-generation of the anterior calf muscles.Muscle biopsy of the proband showed subsarcolemmal"necklace-like"cyto-plasmic bodies and the"erasure"phenomenon on NADH enzyme histochemistry.Both electrocardiogram and echocar-diography 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.关键词
呼吸费力/镶边空泡/远端无力/TTN基因Key words
Weak breathing/Rimmed vacuole/Distal weakness/TTN gene分类
医药卫生引用本文复制引用
韩叶,魏晓晶,孙慧,金睿珂,于雪凡..无明显呼吸功能不全的HMERF 1例报告并文献复习[J].中风与神经疾病杂志,2025,42(5):470-472,3.基金项目
吉林省卫生人才专项项目(JLSWSRCZX2025-021) （JLSWSRCZX2025-021）
吉林省自然科学基金项目(YDZJ202401454ZYTS) （YDZJ202401454ZYTS）
