期刊
MOVEMENT DISORDERS
卷 22, 期 1, 页码 127-130出版社
WILEY-LISS
DOI: 10.1002/mds.21195
关键词
Huntington's disease; phenocopy; autopsy; trinucleotide repeat; neuropathology; chorea
Huntington's disease (RD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of RD; 30 to 35 repeats represent an intermediate range. Here we report a 65-year-old male with autopsy-proven HD and 29 CAG repeats. (C) 2006 Movement Disorder Society.
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