Isolated inclusion body myopathy caused by a multisystem proteinopathy–linked hnRNPA1 mutation

OBJECTIVE: To identify the genetic cause of isolated inclusion body myopathy (IBM) with autosomal dominant inheritance in 2 families. METHODS: Genetic investigations were performed using whole-exome and Sanger sequencing of the heterogeneous nuclear ribonucleoprotein A1 gene (hnRNPA1). The clinical...

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Detalles Bibliográficos
Autores principales: Izumi, Rumiko, Warita, Hitoshi, Niihori, Tetsuya, Takahashi, Toshiaki, Tateyama, Maki, Suzuki, Naoki, Nishiyama, Ayumi, Shirota, Matsuyuki, Funayama, Ryo, Nakayama, Keiko, Mitsuhashi, Satomi, Nishino, Ichizo, 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/PMC4809462/
https://www.ncbi.nlm.nih.gov/pubmed/27066560
http://dx.doi.org/10.1212/NXG.0000000000000023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809462/
https://www.ncbi.nlm.nih.gov/pubmed/27066560
http://dx.doi.org/10.1212/NXG.0000000000000023

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