Associated Papers
Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability.
Akkus N et al.
Molecular Genetics & Genomic Medicine, 2026
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Segarra-Casas A et al.
European Journal of Neurology, 2025
39742415 (PubMed )
Supplement: ENE-32-e16471-s001.docx
Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1-related rhabdomyolysis or myalgia.
Lyu Z et al.
Muscle & Nerve, 2024
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Witting N et al.
Acta Neurologica Scandinavica, 2018
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.
Wang Y et al.
Scientific Reports, 2016
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