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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395678/
https://www.ncbi.nlm.nih.gov/pubmed/28428906
http://dx.doi.org/10.7916/D8Q52VBV

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395678/
https://www.ncbi.nlm.nih.gov/pubmed/28428906
http://dx.doi.org/10.7916/D8Q52VBV

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