A novel variant of RBCK1 gene causes mild polyglucosan myopathy

Talal AlAnzi; Fahad Al Harbi; AbdulAziz AlGhamdi; Sarar Mohamed

doi:10.17712/nsj.2022.1.20210681

Article Information

vol. 27 no. 1 45-49

DOI

https://doi.org/10.17712/nsj.2022.1.20210681

PubMed

35017290

Published By

Neurosciences Journal

Online ISSN

1658-3183

History

Received December 9, 2021
Accepted August 24, 2021
Published online January 11, 2022.

Copyright: © Neurosciences Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.

Author Information

Talal AlAnzi, MD ⇑,
Fahad Al Harbi, MD,
AbdulAziz AlGhamdi, MD and
Sarar Mohamed, MD, FRCPDH

From the Genetics and Metabolic Medicine Division (AlAnzi, Mohamed), Pediatric Neurology Division (AlGhamdi), Pediatrics Department, Newborn Screening Laboratory (Al Harbi), Prince Sultan Military Medical City, and from Pediatrics Department, Alfaisal University (Mohamed), Riyadh, Kingdom of Saudi Arabia

Address correspondence and reprint request to: Dr. Talal S. Alanzi, Genetics and Metabolic Medicine Division, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail: talanzi{at}psmmc.med.sa ORICID ID: https://orcid.org/0000-0003-0315-6759

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