Publication
Ryanodine myopathies without central cores-clinical, histopathologic, and genetic description of three cases.
| dc.contributor.author | Rocha, J | |
| dc.contributor.author | Taipa, R | |
| dc.contributor.author | Melo Pires, M | |
| dc.contributor.author | Oliveira, J | |
| dc.contributor.author | Santos, R | |
| dc.contributor.author | Santos, M | |
| dc.date.accessioned | 2014-08-05T22:21:07Z | |
| dc.date.available | 2014-08-05T22:21:07Z | |
| dc.date.issued | 2014 | |
| dc.description.abstract | BACKGROUND: Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS: Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness from age 5, presenting with a progressive scoliosis starting at age 10. Patient 2 is an 18-year-old girl with progressively worsening muscle hypotrophy and mild proximal, four-limb weakness. She developed a rapidly progressive scoliosis from age 11 and needed surgical treatment at age 14 years. Patient 3 is an 11-year-old boy with moderate proximal limb weakness and progressive neck flexor weakness, first noticed at age 2. Muscle biopsies revealed type 1 fiber predominance (Patients 1 and 2) or abnormal type 1 fiber uniformity (Patient 3). Different RYR1 variants were identified in all patients. In Patients 1 and 3, these changes were validated as being pathogenic. CONCLUSIONS: These patients illustrate early-onset, progressive myopathies with predominant axial involvement. Histopathologic findings were abnormal but not specific for a diagnosis, particularly central core myopathy. Genetic testing helped broaden the range of phenotypes included in the RYR1-related myopathies. Our patients reinforce the need to recognize the broad histopathologic variability of RYR1-related myopathies and sometimes lack of pathognomonic findings that may reduce the diagnostic threshold of this disease. We suggest that the predominance of type 1 fibers and involvement of axial muscles may be an important element to consider the RYR1 gene as candidate. | por |
| dc.identifier.citation | Pediatr Neurol. 2014 Aug;51(2):275-8. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.23/673 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.subject | Criança | por |
| dc.subject | Canal de Libertação de Cálcio do Receptor de Rianodina | por |
| dc.subject | Miopatias Congénitas Estruturais | por |
| dc.title | Ryanodine myopathies without central cores-clinical, histopathologic, and genetic description of three cases. | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |