首页> 外文OA文献 >Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

【2h】

Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

机译：遗传性远端肌萎缩伴声带麻痹和感觉神经性听力丧失：脊髓性肌萎缩的主要形式？

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
相似文献
相关主题

摘要

In 1980 Young and Harper described a family with an unusual form of distal spinal muscular atrophy associated with vocal cord paralysis. We report a family with three similarly affected subjects. Progressive sensorineural hearing loss was an additional feature in our patients. Electrophysiological and histological investigations did not exclude an involvement of sensory neurones. Whether the classification of this dominant disorder with the spinal muscular atrophies is justified will depend on additional studies in further families.

机译：1980年，Young和Harper描述了一个家庭，该家庭患有与声带麻痹相关的远端脊髓性肌萎缩症。我们报告了一个家庭，三个受类似影响的对象。进行性感觉神经性听力减退是我们患者的另一个特征。电生理和组织学研究并未排除感觉神经元的参与。用脊髓性肌萎缩症对这种显性疾病进行分类是否合理，将取决于进一步的研究。

著录项

作者
Boltshauser, E; Lang, W; Spillmann, T; Hof, E;
展开▼
作者单位

展开▼
年度 1989
总页数
原文格式 PDF
正文语种 en
中图分类

相似文献

外文文献
中文文献
专利

1. Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31 (letter) [J] . McEntagart M, Spurlock G, Jackson C, Journal of Medical Genetics . 2000,第8期

机译：远端脊髓性肌萎缩伴声带麻痹（dSMA-VII）与5q31号染色体上的MPD2基因座没有联系（字母）
2. Autosomal dominant congenital spinal muscular atrophy: A true form of spinal muscular atrophy caused by early loss of anterior horn cells [J] . OatesE.C., ReddelS., RodriguezM.L., Brain: A journal of neurology . 2012,第6期

机译：常染色体显性遗传性先天性脊髓性肌萎缩症：由早期角质细胞的早期缺失引起的一种真实形式的脊髓性肌萎缩症
3. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells [J] . Emily C. Oates12 Stephen Reddel234 Michael L. Rodriguez5 Luke C. Gandolfo6 Melanie Bahlo67 Simon H. Hawke8 Shireen R. Lamandé910 Nigel F. Clarke12 and Kathryn N. North12 Brain . 2012,第6期

机译：常染色体显性遗传性先天性脊髓性肌萎缩症：由前角细胞的早期缺失引起的一种真实形式的脊髓性肌萎缩症
4. A Motor Imagery-based Brain-Computer Interface Scheme for a Spinal Muscular Atrophy Subject in CYBATHLON Race [C] . Shi-Chun Bao, Kai Yuan, Cheng Chen, International IEEE/EMBS Conference on Neural Engineering . 2021

机译：基于电机图像的脑电电脑界面方案，用于Cybathlon Race中的脊柱肌肉萎缩课程
5. Glycyl-tRNA synthetase mutations cause Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V: A potentially novel disease mechanism for human peripheral neuropathies. [D] . Antonellis, Anthony. 2005

机译：糖基-tRNA合成酶突变导致2D型Charcot-Marie-Tooth病和V型远端脊髓性肌萎缩症：人类周围神经病的潜在新型疾病机制。
6. Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy? [O] . E Boltshauser, W Lang, T Spillmann, 1989

机译：遗传性远端肌萎缩伴声带麻痹和感觉神经性听力丧失：脊髓性肌萎缩的主要形式？
7. Hereditary distal spinal muscular atrophy with vocal cord paralysis. [O] . Young, I D, Harper, P S 1980

机译：遗传性远端脊髓性肌萎缩伴声带麻痹。

Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?

摘要

著录项

相似文献

相关主题

期刊订阅