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Case ReportsCase Reports
Open Access

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
MD
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  • For correspondence: [email protected]
Fahad 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
MD
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AbdulAziz 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
MD
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Sarar 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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References

  1. 1.↵
    1. Phadke R,
    2. Hedberg-Oldfors C,
    3. Scalco RS,
    4. Lowe DM,
    5. Ashworth M, et al.
    RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature. J Inherit Metab Dis 2020; 43: 1002–1013.
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    Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum. J Neurol 2018; 265: 394–401.
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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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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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