Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women

被引：122

作者：

Schmidt, BJ

Greenberg, CR

Allingham-Hawkins, DJ

Spriggs, EL

机构：

[1] Univ Manitoba, Neurol Sect, Hlth Sci Ctr, Dept Med,Fac Med, Winnipeg, MB R3A 1R9, Canada

[2] Univ Manitoba, Dept Pediat & Child Hlth, Fac Med, Winnipeg, MB R3A 1R9, Canada

[3] Univ Manitoba, Dept Biochem & Med Genet, Fac Med, Winnipeg, MB R3A 1R9, Canada

[4] N York Gen Hosp, Dept Mol Genet, Toronto, ON, Canada

来源：

NEUROLOGY | 2002年 / 59卷 / 05期

关键词：

D O I：

10.1212/WNL.59.5.770

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe the novel occurrence of homozygosity for the CAG expansion in the androgen receptor gone causing Kennedy disease in two sisters (ages 34 and 42). Symptoms were limited to occasional muscle cramps and twitches. Physical examinations were normal apart from mild hand tremor in both women and rare perioral fasciculations in the older sibling. Electrodiagnostic studies were normal except for evidence of mild motor axonal loss in the sternocleidomastoid muscle of the older sibling.

引用

页码：770 / 772

页数：3

共 12 条

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