Clinical and pathological characteristics of OPDM4 patients in advanced disease.
Haixia TangYing XiongKaiyan JiangYu ShenYanyan YuPengcheng HuangMin ZhuXiaobing LiYilei ZhengMeihong ZhouJiaxi YuJianwen DengZhaoxia WangDao-Jun HongYusen QiuDandan TanPublished in: Muscle & nerve (2024)
The clinical and radiological features in this family broaden the phenotypic spectrum of OPDM4. The presence of intranuclear inclusions in the proliferative adipose connective tissues of muscle biopsy specimens holds diagnostic significance for OPDM4 in advanced disease.