摘要
本文报道常染色体显性遗传的腓肌萎缩症Ⅱ型一个家系。家系中共27人,其中6例(男、女各3例)在成年后出现四肢远端缓渐肌萎缩伴无力,下肢明显。2例肌电图呈神经原性损害,周围神经传导速度正常。1例胫骨前肌活检示神经原性肌萎缩,电镜见轴索变性。2例22号染色体短臂增长。
A Charcot-Marie-Tooth disease type Ⅱ(CMTD-Ⅱ) with autosomal dominant inheritance in a family was reported. Of them. 3 males and 3 females had a onset after adult with slowly progressive distal limb weakness and muscular atrophy, more severe in lower limbs than in upper limbs. Electromyography showed evidence of neuronal impairment in distal muscular, and nerve conduction velocities in Tibialis posterior nerve were found normal in 2 cases. Tibialis anterior muscular biopsy demonstrated neuronal muscular atrophy, and electron microscope studies revealed the axonal degeneration in 1 case. Chromosome examination showed part of chrosome 22P+ in 2 cases. Authors thought that variation of chromosome 22 may related with CMTD -Ⅱ .
出处
《交通医学》
1996年第4期27-28,共2页
Medical Journal of Communications
关键词
腓肌萎缩症Ⅱ型
遗传
染色体
Charcot-marie-tooth disease Chromosome Heredity
