TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus. CASE REPORT: A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited f...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Tremor Other Hyperkinet Mov (N Y)
Main Authors: Ngoh, Adeline, Bras, Jose, Guerreiro, Rita, McTague, Amy, Ng, Joanne, Meyer, Esther, Chong, W. Kling, Boyd, Stewart, MacLellan, Linda, Kirkpatrick, Martin, Kurian, Manju A.
Formato: Artigo
Idioma:Inglês
Publicado em: Columbia University Libraries/Information Services 2017
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5395678/
https://ncbi.nlm.nih.gov/pubmed/28428906
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7916/D8Q52VBV
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados