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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325434/
https://www.ncbi.nlm.nih.gov/pubmed/32482619
http://dx.doi.org/10.1242/dmm.041608

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