Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice

• Main Authors: Nozomu Yoshioka (Author), Yudai Kabata (Author), Momona Kuriyama (Author), Norihisa Bizen (Author), Li Zhou (Author), Dang M. Tran (Author), Masato Yano (Author), Atsushi Yoshiki (Author), Tatsuo Ushiki (Author), Thomas J. Sproule (Author), Riichiro Abe (Author), Hirohide Takebayashi (Author)
• Format: Book
• Published: The Company of Biologists, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...