摘要
目的探讨2个眼咽型远端型肌病（OPDM）家系的临床、病理及分子生物学特点。方法对2个家系的先证者行血清肌酶、肌电图、肌肉活体组织检查、肌肉酶组织染色及电镜分析，并于复诊时提取其静脉血DNA样本，进一步行编码多聚腺苷酸结合蛋白核1（PABPN1）、GNE基因突变分析。结果家系1为同代3兄弟发病，家系2为2代4人发病。起病以发音困难伴双下肢无力居多；以发音及吞咽困难为表现的咽部肌群受累较突出。肌肉超微结构电镜分析未见到眼咽型肌营养不良样核内包涵体，2家系先证者PABPN1基因GCN重复拷贝数均为正常（10次，GCG6GCA3GCG1），且GNE基因2～12号外显子均未发现突变。结论2个OPDM家系起病年龄、形式与日本患者类似，但肌肉受累方式有所不同。家系1为中国首个常染色体隐性遗传OPDM家系。本研究结果证实OPDM是一个表型、病理、遗传学独立的肌病实体。
Objective To investigate the clinical, myopathological and molecular changes in two Chinese families with oculopharyngodistal myopathy （OPDM）. Methods We performed muscle biopsy and histopathologic study on the probands of two families, and further examined molecular genetic testing on PABPN1 and CNE gene. Results Family 1 included 3 affected brothers in the same generation and family 2 involved 4 patients in 2 generations. Dysarthria rather than external ophthalmoplegia was the prominent oculopharyngeal symptoms for Chinese patients. No intranuclear inclusions were observed in ultrastrnctural examination. The number of GCG repeats in the PABPN1 gene was within normal range and no mutations were identified in the GNE gene. Conclusions Family 1 is the first publication on autosomal recessive OPDM in China. The age of onset of two families was comparable with Japanese patients and the pattern of muscle involvement was different. OPDM is a distinct phenotypical, histological, and genetic entity.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2012年第8期557-560,共4页
Chinese Journal of Neurology
关键词
肌疾病
肌营养不良
眼咽
包涵体
Poly(A)结合蛋白质Ⅱ
Muscular diseases
Muscular dystrophy, oculopharyngeal
Inclusion bodies
Poly（A） -binding protein Ⅱ
