Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing

OBJECTIVE: To investigate the genetic causes of suspected dysferlinopathy and to reveal the genetic profile for myopathies with dysferlin deficiency. METHODS: Using next-generation sequencing, we analyzed 42 myopathy-associated genes, including DYSF, in 64 patients who were clinically or pathologica...

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Detalles Bibliográficos
Autores principales: Izumi, Rumiko, Niihori, Tetsuya, Takahashi, Toshiaki, Suzuki, Naoki, Tateyama, Maki, Watanabe, Chigusa, Sugie, Kazuma, Nakanishi, Hirotaka, Sobue, Gen, Kato, Masaaki, Warita, Hitoshi, Aoki, Yoko, Aoki, Masashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811388/
https://www.ncbi.nlm.nih.gov/pubmed/27066573
http://dx.doi.org/10.1212/NXG.0000000000000036

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