Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2018.12.024
Abstract: Multiminicore disease is a myopathy that is pathologically characterized by the presence of multiple areas of small, short, and poorly delineated zones of sarcomeric disorganization lacking mitochondria (minicores) that can be observed in both type… read more here.
Keywords: congenital myopathy; multiminicore disease; congenital muscular; muscular dystrophy ... See more keywords
An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101775
Abstract: Peripheral blood mononuclear cells for reprogramming in this work were donated by a girl with clinically and genetically diagnosed multiminicore disease harboring compound heterozygote mutations of RYR1 gene. Induced pluripotent stem cells (iPSCs) were obtained… read more here.
Keywords: ryr1 gene; multiminicore disease; heterozygote mutations; mutations ryr1 ... See more keywords