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Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation
Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation
2019
Anna Marcé-Grau
Marta Correa
María Isabel Vanegas
Teresa Muñoz-Ruiz
Silvia Ferrer-Aparicio
Heidy Baide
Alfons Macaya
Belén Pérez-Dueñas
Keywords:
Myoclonic dystonia
Psychology
Physical therapy
RNA splicing
Bioinformatics
Diabetes mellitus
Mutation
Deep brain stimulation
SGCE
Correction
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