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[肌强直的区域临床遗传学特征]

[Regional clinico-genetic features of myotonias].

作者信息

Khannanova F K

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1986;86(3):342-6.

PMID:2939672
Abstract

The incidence of myotonia in the South-West regions of Uzbekistan is 1.6:100000 of the population. Its proportion among other hereditary diseases of the nervous system is 8.2% and among neuromuscular abnormalities--2.6%. Furthermore, it has been also established that an autosomal-recessive form of non-atrophic myotonia is rather prevalent in this region. It has a number of clinical characteristics which differentiate it from a generalized recessive form prevalent in West Europe.

摘要

乌兹别克斯坦西南部地区肌强直的发病率为每10万人中有1.6例。其在神经系统其他遗传性疾病中的占比为8.2%,在神经肌肉异常疾病中的占比为2.6%。此外,还已确定常染色体隐性非萎缩性肌强直形式在该地区相当普遍。它具有一些临床特征,使其有别于在西欧普遍存在的全身性隐性形式。

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