Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

BACKGROUND: Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cerebellar sy...

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Detalles Bibliográficos
Autores principales: Ali, Zafar, Zulfiqar, Shumaila, Klar, Joakim, Wikström, Johan, Ullah, Farid, Khan, Ayaz, Abdullah, Uzma, Baig, Shahid, Dahl, Niklas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718074/
https://www.ncbi.nlm.nih.gov/pubmed/29207948
http://dx.doi.org/10.1186/s12881-017-0504-6

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