Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype

BACKGROUND: Transport protein particle (TRAPP) is a multiprotein complex involved in endoplasmic reticulum-to-Golgi trafficking. Zebrafish with a mutation in the TRAPPC11 orthologue showed hepatomegaly with steatosis and defects in visual system development. In humans, TRAPPC11 mutations have been r...

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Detalles Bibliográficos
Autores principales: Liang, Wen-Chen, Zhu, Wenhua, Mitsuhashi, Satomi, Noguchi, Satoru, Sacher, Michael, Ogawa, Megumu, Shih, Hsiang-Hung, Jong, Yuh-Jyh, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551700/
https://www.ncbi.nlm.nih.gov/pubmed/26322222
http://dx.doi.org/10.1186/s13395-015-0056-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551700/
https://www.ncbi.nlm.nih.gov/pubmed/26322222
http://dx.doi.org/10.1186/s13395-015-0056-4

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