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MECP2 Duplication Syndrome
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MECP2 Duplication Syndrome : ウィキペディア英語版
MECP2 Duplication Syndrome
MECP2 Duplication Sydrome (M2DS) is a rare X-linked genetic disorder that causes over expression of MECP2 protein. It largely affects young male individuals.〔Pagon, Roberta A., et al. "MECP2 Duplication Syndrome." (2010).〕
The primary symptoms of M2DS include infantile hypotonia, delayed psychomotor development, impaired speech, abnormal or absent gait, epilepsy, spasticity, gastrointestinal motility problems, recurrent infections, and early death. Signs of this disorder are confused with those of autism spectrum disorders and cerebral palsy. The incidence of M2DS is currently unknown but thought to represent ~1% of X-linked male mental disability cases.〔
==References==


抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「MECP2 Duplication Syndrome」の詳細全文を読む



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