Milder forms of muscular dystrophy associated with POMGNT2 mutations

OBJECTIVE: To determine the genetic variants in patients with dystroglycanopathy (DGP) and assess the pathogenicity of these variants. METHODS: A total of 20 patients with DGP were identified by immunohistochemistry or Western blot analysis. Whole-exome sequencing (WES) was performed using patient s...

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Détails bibliographiques
Publié dans:Neurol Genet
Auteurs principaux: Endo, Yukari, Dong, Mingrui, Noguchi, Satoru, Ogawa, Megumu, Hayashi, Yukiko K., Kuru, Satoshi, Sugiyama, Kenji, Nagai, Shigehiro, Ozasa, Shiro, Nonaka, Ikuya, Nishino, Ichizo
Format: Artigo
Langue:Inglês
Publié: Wolters Kluwer 2015
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4811383/
https://ncbi.nlm.nih.gov/pubmed/27066570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000033
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