Novel RYR1 missense mutations in six Chinese patients with central core disease
Author:
Publisher
Elsevier BV
Subject
General Neuroscience
Reference15 articles.
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2. Central core disease is due to RYR1 mutations in more than 90% of patients;Wu;Brain,2006
3. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation;Sato;Neurology,2008
4. Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis;Tilgen;Human Molecular Genetics,2001
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2. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study;Acta Neuropathologica Communications;2022-04-15
3. Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre;BMC Pediatrics;2022-01-26
4. Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes;Neurological Sciences;2020-11-10
5. Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort;Muscle & Nerve;2016-05-25
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