Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q

被引:61
作者
Pellegrino, JE
Rebbeck, TR
Brown, MJ
Bird, TD
Chance, PF
机构
[1] CHILDRENS HOSP PHILADELPHIA, DIV NEUROL, PHILADELPHIA, PA 19104 USA
[2] CHILDRENS HOSP PHILADELPHIA, DIV HUMAN GENET & MOLEC BIOL, PHILADELPHIA, PA 19104 USA
[3] UNIV PENN, SCH MED, DEPT PEDIAT, PHILADELPHIA, PA 19104 USA
[4] UNIV PENN, SCH MED, DEPT NEUROL, PHILADELPHIA, PA 19104 USA
[5] UNIV PENN, SCH MED, DEPT BIOSTAT & EPIDEMIOL, PHILADELPHIA, PA 19104 USA
[6] UNIV WASHINGTON, SCH MED, DEPT NEUROL, SEATTLE, WA USA
[7] UNIV WASHINGTON, SCH MED, DEPT MED, DIV MED GENET, SEATTLE, WA USA
[8] VET ADM MED CTR, SEATTLE, WA USA
关键词
D O I
10.1212/WNL.46.4.1128
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Hereditary neuralgic amyotrophy with predilection for the brachial plexus (HNA) is an autosomal dominant disorder associated with recurrent, episodic, painful brachial neuropathies. Mildly dysmorphic facial features, including hypotelorism, long nasal bridge, and upslanting palpebral fissures, are present in affected persons in some pedigrees with HNA. To determine the chromosomal location of the HNA gene, we carried out genetic linkage studies with polymerase chain reaction-based DNA markers in two large pedigrees. Linkage to markers from the distal long arm of chromosome 17 was established.
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页码:1128 / 1132
页数:5
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