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Gene & Protein in Disease Clinical findings of RYR1 mutation

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Acknowledgments
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The patient’s mother provided signed informed consent for form of central core disease, transiently presenting as
the publication of this case report and any accompanying multi-minicore disease, is associated with a homozygous
images. We would like to thank both the mother and father mutation in the ryanodine receptor type 1 gene. Ann Neurol.
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Funding
6. MacKenzie AE, Korneluk RG, Zorzato F, et al. The human
None. ryanodine receptor gene: Its mapping to 19q13.1, placement
in a chromosome 19 linkage group, and exclusion as
Conflict of interest the gene causing myotonic dystrophy. Am J Hum Genet.
The authors declare that they have no competing interests. 1990;46(6):1082-1089.
7. Klein A, Lillis S, Munteanu I, et al. Clinical and genetic
Author contributions findings in a large cohort of patients with ryanodine
receptor 1 gene-associated myopathies. Hum Mutat.
Conceptualization: Nagehan Bilgeç 2012;33(6):981-988.
Writing–original draft: Nagehan Bilgeç
Writing–review & editing: All authors doi: 10.1002/humu.22056
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Ethics approval and consent to participate Central core disease, multiminicore disease, dusty core
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accordance with the local guidelines. Written informed 2021;31(10):968-977.
consent was obtained from the legal guardian of the doi: 10.1016/j.nmd.2021.08.015
patient for publication of details of their medical case and 9. Cheng H, Lederer WJ, Cannell MB. Calcium sparks:
any accompanying images. Elementary events underlying excitation-contraction
coupling in heart muscle. Science. 1993;262:740-744.
Consent for publication
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The patient’s mother provided signed informed consent for 10. Gehlert S, Bloch W, Suhr F. Ca2+-dependent regulations
the publication of this case report and any accompanying and signaling in skeletal muscle: From electro-mechanical
images. coupling to adaptation. Int J Mol Sci. 2015;16(1):1066-1095.
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The data supporting the findings of the study are available 11. Bronner F. Extracellular and intracellular regulation of
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