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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Tremor Other Hyperkinet Mov (N Y)
Egile Nagusiak: Ngoh, Adeline, Bras, Jose, Guerreiro, Rita, McTague, Amy, Ng, Joanne, Meyer, Esther, Chong, W. Kling, Boyd, Stewart, MacLellan, Linda, Kirkpatrick, Martin, Kurian, Manju A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Columbia University Libraries/Information Services 2017
Gaiak:
Case Reports
Sarrera elektronikoa: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
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