Associated Papers
Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.
Rossi D et al.
Neuromuscular Disorders : Nmd, 2026
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A et al.
Acta Neuropathologica Communications, 2022
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F et al.
Journal of Neurology, 2015
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