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

Koide, Noriko

Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia. [electronic resource] - Pediatrics international : official journal of the Japan Pediatric Society Sep 2017 - 1018-1020 p. digital

Publication Type: Case Reports; Journal Article

1442-200X

10.1111/ped.13335 doi


Child, Preschool
Codon, Nonsense
Dystonic Disorders--diagnosis
Female
Genetic Markers
Humans
Japan
Male
Sarcoglycans--genetics