MYOT相关肌原纤维肌病表现为正常肌酸激酶和肌电图：早期基因检测的重要性
MYOT-related myofibrillar myopathy presenting with normal creatine kinase and electromyography: importance of early genetic testing.
摘要(中文译文)
一位60多岁男性表现为进行性、对称性肩带及大腿带肌无力，而肌酸激酶和肌电图检查结果均正常。腰椎MRI仅显示与年龄相符的退行性改变，不足以解释其症状。一项针对60个基因的靶向下一代测序面板检出杂合c.179C>T（p.Ser60Phe）变异，确诊为相关肌原纤维肌病。心脏评估显示轻度主动脉根部扩张、二尖瓣反流及频发房性期前收缩。患者接受了监督下的离心强化物理治疗，1年内功能保持稳定。本病例强调，肌病可表现为酶水平保留及电诊断检查正常，若临床医生仅依赖常规检查，则存在诊断延迟的风险。对不明原因近端肌无力患者早期进行基因面板测序可加快诊断、指导心脏监测并为家系级联检测提供依据。
Abstract
A man in his 60s presented with progressive, symmetric weakness of the shoulder and thigh girdles despite normal creatine kinase and electromyography findings. Lumbar spine MRI revealed only age-appropriate degenerative changes, insufficient to explain his symptoms. A targeted 60-gene next-generation sequencing panel identified a heterozygous c.179C>T (p.Ser60Phe) variant, confirming -related myofibrillar myopathy. Cardiac evaluation demonstrated mild aortic-root dilatation, mitral regurgitation and frequent premature atrial contractions. The patient underwent supervised eccentric-strengthening physiotherapy with stable function over 1 year. This case underscores that myopathy can present with preserved enzyme levels and normal electrodiagnostic studies, risking diagnostic delay if clinicians rely solely on conventional testing. Early gene-panel sequencing in patients with unexplained proximal weakness can expedite diagnosis, guide cardiac surveillance and inform family cascade testing.
如何引用
AMA
Keshav Viradia, Manish Viradia. MYOT-related myofibrillar myopathy presenting with normal creatine kinase and electromyography: importance of early genetic testing.. BMJ case reports. 2026; doi:10.1136/bcr-2025-270825.
APA
Keshav Viradia, Manish Viradia (2026). MYOT-related myofibrillar myopathy presenting with normal creatine kinase and electromyography: importance of early genetic testing.. BMJ case reports. https://doi.org/10.1136/bcr-2025-270825
GB/T 7714
Keshav Viradia, Manish Viradia. MYOT-related myofibrillar myopathy presenting with normal creatine kinase and electromyography: importance of early genetic testing.[J]. BMJ case reports, 2026 doi:10.1136/bcr-2025-270825.
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