常染色体显性遗传中央核肌病一家系临床、病理和分子生物学特点  

Clinical,pathological and molecular biological study on a family of autosomal dominant inherited centronuclear myopathy

作　　者：张永庆[1] 顾卫红[1] 郝莹[1] 潘琳[1] 杜皓萍[1] 严莉[1] 段晓慧[1] 孙少杰[1] 王国相[1] 

机构地区：[1]中日友好医院神经内科,北京100029

出　　处：《中华神经科杂志》2007年第10期663-666,共4页Chinese Journal of Neurology

摘　　要：目的分析常染色体显性遗传中央核肌病(centronuclear myopathy,CNM)一家系中患者的临床、病理和基因突变特点。方法对家系中患者及其家属进行详细的神经系统检查,先证者行肌肉活检、组织学和酶组织化学染色,并进行动力蛋白2(dynamin 2,DNM2)基因突变检测。结果 2例患者以双下肢无力为首发和主要症状,远端为著,伴有明显的全身肌肉萎缩,渐进性加重;先证者肌酸激酶轻度升高,2例患者肌电图均呈肌源性改变;家系中无其他类似患者。肌肉呈现中央核肌病的典型病理改变,90%的肌纤维中出现中央核,核周肌质带呈放射状排列,Ⅰ型纤维优势和萎缩。DNM2高频突变区域测序证实为外显子8 1105C→T突变。结论从临床、病理及基因等方面证实本家系为遗传性中央核肌病,致病基因为 DNM2。Objective To investigate the clinical, pathological and genetic features of the patients from a pedigree of autosomal dominant inherited centronuclear myopathy （CNM）. Methods Clinical examinations were performed in patients and unaffected members of the pedigree. Muscular enzymes and EMG were checked in the patients. Muscle biopsy was performed in proband. The specimen was used for histological and histochemical staining. Reported mutations of dynamin 2 （DNM2） genes were scanned in family members. Results The initial symptom was weakness of lower extremities. Muscular atrophy was also prominent. Serum creatine kinase was slightly elevated in proband. The EMG of 2 patients showed myopathy change. The most prominent histopathological features included the high frequency of centrally located nuclei in a large number of the extrafusal muscle fibers, radial arrangement of sarcoplasmic strands around the central nuclei and predominant and hypotrophy of type Ⅰ fiber. Exon 8 and 11 of DNM2 were analyzed by PCR and sequencing, and 1105C→T mutation was revealed. Conclusions This pedigree is verified as CNM clinical, pathological and genetic researches. DNM2 gene mutation is confirmed in Asian autosomal dominant inherited CNM pedigree.

关 键 词：肌病 结构性 先天性 动力蛋白质Ⅱ 系谱 

分 类 号：R746[医药卫生—神经病学与精神病学]