Article
Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice.
Disease models & mechanisms - 21 May 2020
Yoshioka Nozomu, Kabata Yudai, Kuriyama Momona, Bizen Norihisa, Zhou Li, Tran Dang M, Yano Masato, Yoshiki Atsushi, Ushiki Tatsuo, Sproule Thomas J, Abe Riichiro, Takebayashi Hirohide
Abstract excerpt
Loss-of-function mutations in dystonin (DST) can cause hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) or epidermolysis bullosa simplex (EBS). Recently, DST-related diseases were recognized to be more complex than previously thought because a patient exhibited both neurological and skin manifestations, whereas others display only one or the other. A single DST locus produces at least three major DST...
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