Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene

Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy is a non-progressive disorder characterized by distal tremors. Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy has been reported globally with different genetic predispositions of autosomal dominant inheritance with a high degree...

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Detalles Bibliográficos
Autores principales: Mahadevan, Radha, Bhoyar, Rahul C, Viswanathan, Natarajan, Rajagopal, Raskin Erusan, Essaki, Bobby, Suroliya, Varun, Chelladurai, Rachel, Sankaralingam, Saravanan, Shanmugam, Ganesan, Vayanakkan, Sriramakrishnan, Shamim, Uzma, Mathur, Aradhana, Jain, Abhinav, Imran, Mohamed, Faruq, Mohammed, Scaria, Vinod, Sivasubbu, Sridhar, Kalyanaraman, Shantaraman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7811760/
https://www.ncbi.nlm.nih.gov/pubmed/33501421
http://dx.doi.org/10.1093/braincomms/fcaa214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7811760/
https://www.ncbi.nlm.nih.gov/pubmed/33501421
http://dx.doi.org/10.1093/braincomms/fcaa214

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