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[遗传性视神经萎缩]

[Hereditary optic atrophies].

作者信息

Francois J

出版信息

J Genet Hum. 1976 Sep;24(3):183-200.

PMID:1003172
Abstract

Congenital or infantile autosomal recessive optic atrophy is rare. The autosomal recessive syndrome of optic atrophy associated with diabetes is less rare. Dominant juvenile optic atrophy occurs frequently. Behr's heredo-familial optic atrophy, with its neurological mainfestations and its recessive autosomal inheritance, is rare. Sex-linked optic atrophy is exceptional. Leber's optic neuritis occurs frequently. Its heredity is apparently sex-linked, but no classical mode of transmission can be applied. Cytoplasmic heredity is the most probable.

摘要

先天性或婴儿型常染色体隐性遗传性视神经萎缩较为罕见。与糖尿病相关的常染色体隐性遗传性视神经萎缩综合征则没那么罕见。显性青少年型视神经萎缩较为常见。伴有神经学表现及常染色体隐性遗传的贝赫遗传性家族性视神经萎缩较为罕见。性连锁视神经萎缩则极为罕见。莱伯视神经炎较为常见。其遗传方式显然是性连锁的,但无法应用经典的遗传模式。最有可能的是细胞质遗传。

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