Charcot‐Marie‐Tooth disease: Data for genetic counseling relating age to risk

Clinical Genetics - Tập 14 Số 1 - Trang 43-49 - 1978
Thomas D. Bird1, George H. Kraft2
1Department of Medicine, Divisions of Neurology and Medical Genetics
2Department of Rehabilitation Medicine, University of Washington School of Medicine and the Veterans Administration Hospital, Seattle, Washington, U.S.A.

Tóm tắt

One hundred and nine individuals from complete sibships at risk for autosomal dominant Charcot‐Marie‐Tooth (CMT) disease in 15 unrelated families were evaluated by physical examination and motor nerve conduction studies. Penetrance of the gene was 28% in the first decade, but was essentially complete by the middle of the third decade. The average age of onset of symptoms was 12.2 y, with a standard deviation of 7.3. Persons at risk who have no clinical manifestations and who are over age 27 have less than a 3% probability of having inherited the CMT gene.

Từ khóa


Tài liệu tham khảo

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Thông tin
Thông tin xuất bản

Clinical Genetics

Tập 14 Số 1

43-49

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