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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Neurol Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2015
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4809462/
https://ncbi.nlm.nih.gov/pubmed/27066560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000023
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky