DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy

Centronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild muscle weakness, and can have multiple modes o...

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发表在:	Genetics and Molecular Biology
Main Authors:	Osorio Abath Neto, Cristiane de Araújo Martins, Mary Carvalho, Gerson Chadi, Katia Werneck Seitz, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Jocelyn Laporte, Edmar Zanoteli
格式:	文件
语言:	英语
出版:	Sociedade Brasileira de Genética 2015-06-01
主题:	centronuclear myopathy DNM2 dynamin 2 congenital myopathy
在线阅读:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000200147&lng=en&tlng=en