Low frequency hereditary deafness in man with childhood onset.
Low frequency hereditary deafness in man with childhood onset.
复制标题
男性低频遗传性耳聋在儿童期发病。
DOI：
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发表时间：
1981
影响因子：
9.8
通讯作者：
J. A. Rodríguez
中科院分区：
文献类型：
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作者：
P. León;J. Bonilla;Jordi Redondo;R. Vanegas;M. Villalobos;L. Torres;F. León;A. L. Howell;J. A. Rodríguez
一个大的遗传性耳聋的影响与一个渐进的感觉神经损失，开始在儿童时期的低听力频率描述。耳聋在青少年时期进展缓慢，通常可以检测到高达70分贝的损失。受影响的成年人在所有频率上都表现出严重的损失。从遗传学上讲，这种耳聋是作为一种简单的显性常染色体突变而传播的。在涉及医学检查、护理史、几种血清成分定量、心电图、脑电图和核型的研究中未检测到相关异常。
A large kindred of hereditary deaf affected with a progressive sensorineural loss that begins during childhood with the low audiologic frequencies is described. Deafness progresses slowly through adolescence, when losses of up to 70 decibels are often detected. Affected adults present profound losses at all frequencies. Genetically, this deafness is transmitted as a simple, dominant, and autosomal mutation. No associated abnormalities have been detected in studies involving medical examinations, care histories, quantitation of several blood serum components, electrocardiograms, electrophoretograms, and karyotypes.