TY  - GEN
AU  - Koide,Noriko
AU  - Dateki,Sumito
AU  - Watanabe,Kiyoko
AU  - Moriuchi,Hiroyuki
TI  - Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia
SN  - 1442-200X
PY  - 2018///0716
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Dystonic Disorders
KW  - diagnosis
KW  - Female
KW  - Genetic Markers
KW  - Humans
KW  - Japan
KW  - Male
KW  - Sarcoglycans
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1111/ped.13335
ER  -