DNA ANALYSIS IN FINNISH PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)

被引：16
|
作者：
SILANDER, K
HALONEN, P
SARA, R
KALIMO, H
FALCK, B
SAVONTAUS, ML
机构：
[1] UNIV TURKU,INST BIOMED,DEPT MED GENET,SF-20520 TURKU,FINLAND
[2] UNIV TURKU,CENT HOSP,SF-20520 TURKU,FINLAND
[3] UNIV TURKU,CENT HOSP,DEPT CLIN NEUROPHYSIOL,SF-20520 TURKU,FINLAND
[4] UNIV TURKU,CTR BIOTECHNOL,SF-20520 TURKU,FINLAND
[5] UNIV TURKU,DEPT PATHOL,SF-20520 TURKU,FINLAND
[6] UNIV TURKU,DEPT BIOL,SF-20520 TURKU,FINLAND
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 1994年 / 57卷 / 10期
关键词：
D O I：
10.1136/jnnp.57.10.1260
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Hereditary neuropathy with liability to pressure palsies (HNPP) is a dominantly inherited disorder that presents as recurrent mononeuropathies precipitated by apparently trivial traumas. The presence of a deletion in 17p11.2 was analysed in 13 Finnish families with HNPP. The deletion was found in all patients who were neurologically and neurophysiologically confirmed to have HNPP. In the problematic cases the detection of the gene defect is the method of choice in the diagnosis of HNPP. Analysis of DNA can also be used to detect clinically unaffected family members.
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收藏
页码：1260 / 1262
页数：3
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