Emery dreifuss muscular dystrophy(EDMD) is a rare genetic syndrome consisting of tendon retractions,progressive muscle atrophy and cardiac involvement.We report a case of an obese patient affected by the familial X-li...Emery dreifuss muscular dystrophy(EDMD) is a rare genetic syndrome consisting of tendon retractions,progressive muscle atrophy and cardiac involvement.We report a case of an obese patient affected by the familial X-linked form in which a pericallosal lipoma was found during investigation for a suspected acute vasculopathy.To date,EDMD has never been associated with cerebral lipomas and the X-linked form was never considered to be involved in lipodystrophic syndromes or non-muscular conditions.Our case confirms the variable expressivity of the disease and suggests a possible role of Emerin in the intranuclear regulation of signals for adipocyte cell differentiation.展开更多
分析1例骨斑点症患者的临床特点并检测LAP2-emerin-MAN1 domain-containing protein 3(LEMD3)基因突变,结合文献探讨骨斑点症的发病机制、临床表现、病理特征及影像学特点。患者,女性,37岁,汉族,因体检X线胸片发现肩关节异常就诊。父母...分析1例骨斑点症患者的临床特点并检测LAP2-emerin-MAN1 domain-containing protein 3(LEMD3)基因突变,结合文献探讨骨斑点症的发病机制、临床表现、病理特征及影像学特点。患者,女性,37岁,汉族,因体检X线胸片发现肩关节异常就诊。父母非近亲结婚,家族中无类似病史。体格检查示四肢关节活动自如,无压痛。X线片检查发现肱骨、锁骨、肩胛骨及部分肋骨、骨盆、双膝关节和双踝关节骨内多发边缘清晰、密度均匀的圆形或卵圆形钙化点。实验室生化检查未见异常。基因组DNA进行LEMD3基因突变检测,结果显示在12号外显子上存在1个杂合错义突变,即c. 2569G>A,导致p. Gly858Arg。骨斑点症是一种罕见的良性骨质硬化性疾病,临床症状常不明显。临床上对骨斑点症应常规检测LEMD3基因突变。展开更多
文摘Emery dreifuss muscular dystrophy(EDMD) is a rare genetic syndrome consisting of tendon retractions,progressive muscle atrophy and cardiac involvement.We report a case of an obese patient affected by the familial X-linked form in which a pericallosal lipoma was found during investigation for a suspected acute vasculopathy.To date,EDMD has never been associated with cerebral lipomas and the X-linked form was never considered to be involved in lipodystrophic syndromes or non-muscular conditions.Our case confirms the variable expressivity of the disease and suggests a possible role of Emerin in the intranuclear regulation of signals for adipocyte cell differentiation.
