A family with apparently sex-linked optic atrophy.
نویسندگان
چکیده
A family is described in which a probable new form of sex-linked optic atrophy was found in eight individuals. Some additional neurological abnormalities were noted. Results of studies of the Xg blood group excluded close linkage between the optic atrophy and Xg genes. As a probable coincidence, Huntington's chorea was found in a side branch of the family.
منابع مشابه
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OBJECTIVE To evaluate a family with autosomal dominant optic atrophy, which has been previously linked to the Kidd blood group. DESIGN Clinical evaluation with the assessment of visual acuity, color vision, and optic nerve appearance to determine affection status. Linkage analysis using polymorphic DNA markers. RESULTS Visual acuities ranged from 20/20 to 6/200. Although linkage was exclude...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 12 1 شماره
صفحات -
تاریخ انتشار 1975