Literature DB >> 28707723

Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia.

Noriko Koide1, Sumito Dateki1, Kiyoko Watanabe1, Hiroyuki Moriuchi1.   

Abstract

Entities:  

Keywords:  zzm321990SGCEzzm321990; dystonia; imprinting; myoclonus; nonsense-mediated mRNA decay

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Year:  2017        PMID： 28707723     DOI： 10.1111/ped.13335

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  1 in total

1.  A Japanese family with dystonia due to a pathogenic variant in SGCE.

Authors:  Takuya Morikawa; Shiroh Miura; Luoming Fan; Emina Watanabe; Ryuta Fujioka; Hiromichi Motooka; Shingo Yasumoto; Yusuke Uchiyama; Hiroki Shibata
Journal:  Hum Genome Var       Date:  2022-08-22
  1 in total

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