Kang Yulai, Yang Tong, Chen Xue, Min Zhuo, Tang Chunhua, Zhang Lili, Guo Lu
Department of Internal Medicine, No. 93285 Hospital of PLA, Jilin, China.
Air Force Medical Center, Air Force Medical University, Beijing, China.
J Hum Genet. 2025 Sep 1. doi: 10.1038/s10038-025-01400-7.
MYH2-associated myopathy is a group of congenital heterogeneous diseases. Case reports with MYH2-associated myopathy due to compound heterozygous mutations are rare. We report a 63-year-old Asian female who presented with bilateral ptosis and limb weakness for over 10 years. The orbits magnetic resonance imaging showed no abnormalities. Muscle biopsy revealed characteristics consistent with congenital neuromuscular disease with uniform type 1 fibers. Genetic testing identified compound heterozygous mutations in the MYH2 gene: a heterozygous mutation in exon 30, c.4066G>T (chr17:10430037, p.E1356X) and a heterozygous mutation in exon 38, c.5473-1G>A (chr17:10426730, splicing). The novel gene mutations are considered potential pathogenic variants. MYH2-associated myopathy was diagnosed. Following treatment with cytidine diphosphate choline, coenzyme Q10, methylcobalamin, and idebenone, her ocular symptoms showed slight improvement before discharge. This case highlights the importance of genetic testing in diagnosing rare myopathies and expands the genetic spectrum of MYH2-associated myopathy.
与肌球蛋白重链2（MYH2）相关的肌病是一组先天性异质性疾病。因复合杂合突变导致的与MYH2相关的肌病的病例报告很少见。我们报告一名63岁的亚洲女性，她出现双侧上睑下垂和肢体无力超过10年。眼眶磁共振成像未显示异常。肌肉活检显示出与先天性神经肌肉疾病一致的特征，即1型纤维均匀。基因检测在MYH2基因中鉴定出复合杂合突变：外显子30中的杂合突变，c.4066G>T（chr17:10430037，p.E1356X）和外显子38中的杂合突变，c.5473-1G>A（chr17:10426730，剪接）。这些新的基因突变被认为是潜在的致病变异。诊断为与MYH2相关的肌病。在用胞二磷胆碱、辅酶Q10、甲钴胺和艾地苯醌治疗后，她的眼部症状在出院前有轻微改善。该病例突出了基因检测在诊断罕见肌病中的重要性，并扩展了与MYH2相关的肌病的基因谱。
