Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers
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- 作者：Mariz Vainzof ; mvainzof@usp.br" class="auth_mail" title="E-mail the corresponding author ; Leticia Feitosa ; Marta Canovas ; Danielle Ayub-Guerrieri ; Rita de Cá ; ssia M. Pavanello ; Mayana Zatz
- 关键词：Duchenne dystrophy ; Milder progression ; Utrophin
- 刊名：Neuromuscular Disorders
- 出版年：2016
- 出版时间：March 2016
- 年：2016
- 卷：26
- 期：3
- 页码：197-200
- 全文大小：1174 K
文摘
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A study of utrophin in rare phenotypically discordant DMD brothers was done.
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Utrophin amount was increased 3.4 and 3.3 fold in the two brothers on blots.
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Utrophin was equally upregulated in severe and mild DMD/BMD half-brothers.
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Milder phenotype in an exceptional DMD patient is not caused by utrophin over expression.