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- [41] Central core congenital myopathy autosomal dominant phenotype with RYR1 gene mutation. On the purpose of a clinical case ACTA PEDIATRICA DE MEXICO, 2022, 43 (06): : 353 - 357
- [43] Functional Properties of RYR1 Mutations Identified in Swedish Patients with Malignant Hyperthermia and Central Core Disease ANESTHESIA AND ANALGESIA, 2010, 111 (01): : 185 - 190
- [47] Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region JOURNAL OF CLINICAL NEUROLOGY, 2015, 11 (01): : 97 - 101