Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
Saved in:
| Title: | Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy. |
|---|---|
| Authors: | Vattemi, Gaetano Nicola Alfio (AUTHOR), Rossi, Daniela (AUTHOR), Galli, Lucia (AUTHOR), Catallo, Maria Rosaria (AUTHOR), Pancheri, Elia (AUTHOR), Marchetto, Giulia (AUTHOR), Cisterna, Barbara (AUTHOR), Malatesta, Manuela (AUTHOR), Pierantozzi, Enrico (AUTHOR), Tonin, Paola (AUTHOR), Sorrentino, Vincenzo (AUTHOR) |
| Source: | European Journal of Neuroscience. Aug2022, Vol. 56 Issue 3, p4214-4223. 10p. 1 Color Photograph, 1 Chart. |
| Subjects: | Malignant hyperthermia, Ryanodine receptors, Magnetic resonance imaging, Muscle diseases, Creatine kinase |
| Abstract: | Two likely causative mutations in the RYR1 gene were identified in two patients with myopathy with tubular aggregates, but no evidence of cores or core‐like pathology on muscle biopsy. These patients were clinically evaluated and underwent routine laboratory investigations, electrophysiologic tests, muscle biopsy and muscle magnetic resonance imaging (MRI). They reported stiffness of the muscles following sustained activity or cold exposure and had serum creatine kinase elevation. The identified RYR1 mutations (p.Thr2206Met or p.Gly2434Arg, in patient 1 and patient 2, respectively) were previously identified in individuals with malignant hyperthermia susceptibility and are reported as causative according to the European Malignant Hyperthermia Group rules. To our knowledge, these data represent the first identification of causative mutations in the RYR1 gene in patients with tubular aggregate myopathy and extend the spectrum of histological alterations caused by mutation in the RYR1 gene. [ABSTRACT FROM AUTHOR] |
| Copyright of European Journal of Neuroscience is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
|
Full text is not displayed to guests.
Login for full access.
|
|
| Abstract: | Two likely causative mutations in the RYR1 gene were identified in two patients with myopathy with tubular aggregates, but no evidence of cores or core‐like pathology on muscle biopsy. These patients were clinically evaluated and underwent routine laboratory investigations, electrophysiologic tests, muscle biopsy and muscle magnetic resonance imaging (MRI). They reported stiffness of the muscles following sustained activity or cold exposure and had serum creatine kinase elevation. The identified RYR1 mutations (p.Thr2206Met or p.Gly2434Arg, in patient 1 and patient 2, respectively) were previously identified in individuals with malignant hyperthermia susceptibility and are reported as causative according to the European Malignant Hyperthermia Group rules. To our knowledge, these data represent the first identification of causative mutations in the RYR1 gene in patients with tubular aggregate myopathy and extend the spectrum of histological alterations caused by mutation in the RYR1 gene. [ABSTRACT FROM AUTHOR] |
|---|---|
| ISSN: | 0953816X |
| DOI: | 10.1111/ejn.15728 |
