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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Detalles Bibliográficos
Autores principales: Abath, Osorio, Martins, Cristiane de Araújo, Carvalho, Mary, Chadi, Gerson, Seitz, Katia Werneck, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Laporte, Jocelyn, Zanoteli, Edmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2015
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530644/
https://www.ncbi.nlm.nih.gov/pubmed/26273216
http://dx.doi.org/10.1590/S1415-4757382220140238

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4530644/
https://www.ncbi.nlm.nih.gov/pubmed/26273216
http://dx.doi.org/10.1590/S1415-4757382220140238

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