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利比亚班加西遗传性运动神经病的临床、流行病学及遗传学研究

A clinical, epidemiological and genetic study of hereditary motor neuropathies in Benghazi, Libya.

作者信息

Radhakrishnan K, Thacker A K, Maloo J C

机构信息

Department of Medicine, Arab Medical University, Benghazi, Libya.

出版信息

J Neurol. 1988 Sep;235(7):422-4. doi: 10.1007/BF00314486.

Abstract

A 4-year-search for spinal muscular atrophies (hereditary motor neuropathies, HMN) in Benghazi, Libya, yielded a total of 24 patients, among whom 18 were index cases. This group comprised 6 acute infantile, 12 chronic childhood, and 3 each with adult-onset proximal, and distal forms of the disorder. Distal HMN constituted 12.5% of the total cases. The crude average annual incidence of acute infantile HMN was 0.3/100,000 total population and 1/12,500 births in Benghazi. The crude prevalence rates of chronic childhood, adult-onset proximal, and distal types of HMN were 2.3, 0.6, and 0.6/100,000 respectively. The segregation ratios, 0.26 for acute infantile HMN and 0.24 for chronic childhood HMN, suggested autosomal recessive inheritance. The consanguinity rates among parents of cases and the population did not differ significantly.

摘要

在利比亚班加西进行的一项为期4年的脊髓性肌萎缩症(遗传性运动神经病,HMN)调查中,共发现24例患者,其中18例为首发病例。该组包括6例急性婴儿型、12例慢性儿童型,以及3例成人起病的近端型和远端型疾病患者。远端HMN占总病例数的12.5%。班加西急性婴儿型HMN的粗年平均发病率为每10万总人口0.3例,每12500例出生中有1例。慢性儿童型、成人起病近端型和远端型HMN的粗患病率分别为每10万人口2.3例、0.6例和0.6例。急性婴儿型HMN的分离比为0.26,慢性儿童型HMN的分离比为0.24,提示为常染色体隐性遗传。病例父母与人群中的近亲结婚率无显著差异。

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