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...
| Autores principales: | , , , , , , , , |
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| Formato: | Artículo |
| Lenguaje: | English |
| Publicado: |
Sociedade Brasileira de Genética
2015-06-01
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| Colección: | Genetics and Molecular Biology |
| Materias: | |
| Acceso en línea: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000200147&lng=en&tlng=en |