A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family

Background and objectives: Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an ultra-rare disorder characterized by slowly progressive cerebellar ataxia, cognitive deficiencies, and skeletal and oculomotor abnormalities. The objective of this case report is to expand the clinical and molecu...

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Detalles Bibliográficos
Autores principales: Yousaf, Hammad, Fatima, Ambrin, Ali, Zafar, Baig, Shahid M., Toft, Mathias, Iqbal, Zafar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498400/
https://www.ncbi.nlm.nih.gov/pubmed/36140834
http://dx.doi.org/10.3390/genes13091667

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498400/
https://www.ncbi.nlm.nih.gov/pubmed/36140834
http://dx.doi.org/10.3390/genes13091667

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