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A novel variant of RBCK1 gene causes mild polyglucosan myopathy
Talal AlAnzi, Fahad Al Harbi, AbdulAziz AlGhamdi and Sarar Mohamed
Neurosciences Journal January 2022, 27 (1) 45-49; DOI: https://doi.org/10.17712/nsj.2022.1.20210681
Talal AlAnzi
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
MDFahad Al Harbi
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
MDAbdulAziz AlGhamdi
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
MDSarar Mohamed
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
MD, FRCPDH
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A novel variant of RBCK1 gene causes mild polyglucosan myopathy
Talal AlAnzi, Fahad Al Harbi, AbdulAziz AlGhamdi, Sarar Mohamed
Neurosciences Journal Jan 2022, 27 (1) 45-49; DOI: 10.17712/nsj.2022.1.20210681
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