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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Vydáno v:Genet Mol Biol
Hlavní autoři: Abath, Osorio, Martins, Cristiane de Araújo, Carvalho, Mary, Chadi, Gerson, Seitz, Katia Werneck, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Laporte, Jocelyn, Zanoteli, Edmar
Médium: Artigo
Jazyk:Inglês
Vydáno: Sociedade Brasileira de Genética 2015
Témata:
Human and Medical Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4530644/
https://ncbi.nlm.nih.gov/pubmed/26273216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-4757382220140238
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