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Clinical and electrophysiological features in Chinese patients with Kennedy's disease |
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| Authors: | Hui A C F,Cheung P T,Tang A S Y,Fu M,Wong L,Kay R Hong Kong Neuromuscular Disease Study Group |
| Affiliation: | a Department of Medicine & Therapeutics, Prince of Wales Hospital, Chinese University of Hong Kong, Hong Kong, SAR, China b Department of Paediatrics, Queen Mary Hospital, Hong Kong University, Hong Kong, SAR, China |
| Abstract: | Kennedy’s disease is a X-linked neuromuscular disorder caused by an expanded trinucleotide repeat in the androgen receptor gene. To ascertain the clinical diagnosis of Kennedy’s disease in a Chinese population, we used a rapid, accurate PCR-based sizing method for the CAG repeat allelotype. The clinical and electrophysiological features of affected patients are described. The CAG repeats ranged from 43 to 53 and were inversely correlated with the age of onset (r=−0.63; P<0.005). |
| Keywords: | Kennedy’s disease Genetics Trinucleotide repeats Electrophysiology |
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