TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

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TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

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作者：Guja Astrea^a ; Ilaria Pezzini^a ; Ester Picillo^b ; Rosa Pasquariello^a ; Francesca Moro^a ; Manuela Ergoli^b ; Paola D'Ambrosio^b ; Adele D'Amico^c ; Luisa Politano^b ; Filippo Maria Santorelli^a ; ^{filippo3364@gmail.com" class="auth_mail" title="E-mail the corresponding author}
关键词：Congenital muscular dystrophy ; TMEM5 ; Polymicrogyria ; Cochlear dysplasia ; Limb-girdle muscle weakness
刊名：Neuromuscular Disorders
出版年：2016
出版时间：July 2016
年：2016
卷：26
期：7
页码：459-461
全文大小：890 K

文摘

•: We studied a CMD patient with structural brain abnormalities.
•: Next-generation sequencing identified a reported variant in TMEM5.
•: We expanded the spectrum of TMEM5-associated disorders.

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