التفاصيل البيبلوغرافية
| العنوان: |
An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy |
| المؤلفون: |
Jokela, Manu, Tasca, Giorgio, Vihola, Anna, Mercuri, Eugenio, Jonson, Per-Harald, Lehtinen, Sara, Välipakka, Salla, Pane, Marika, Donati, Maria, Johari, Mridul, Savarese, Marco, Huovinen, Sanna, Isohanni, Pirjo, Palmio, Johanna, Hartikainen, Päivi, Udd, Bjarne |
| المساهمون: |
Medicum, Department of Medical and Clinical Genetics, University of Helsinki, HUS Children and Adolescents, Staff Services, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Clinicum, Children's Hospital |
| بيانات النشر: |
Lippincott williams & wilkins |
| سنة النشر: |
2021 |
| المجموعة: |
Helsingfors Universitet: HELDA – Helsingin yliopiston digitaalinen arkisto |
| مصطلحات موضوعية: |
CENTRAL CORE DISEASE, CONGENITAL MYOPATHY, RYR1-RELATED MYOPATHIES, RECESSIVE MUTATIONS, COMMON-CAUSE, GENE, DOMINANT, DEPLETION, MYALGIA, Neurosciences, Neurology and psychiatry |
| الوصف: |
Objective To identify the genetic defect causing a distal calf myopathy with cores. Methods Families with a genetically undetermined calf-predominant myopathy underwent detailed clinical evaluation, including EMG/nerve conduction studies, muscle biopsy, laboratory investigations, and muscle MRI. Next-generation sequencing and targeted Sanger sequencing were used to identify the causative genetic defect in each family. Results A novel deletion-insertion mutation in ryanodine receptor 1 (RYR1) was found in the proband of the index family and segregated with the disease in 6 affected relatives. Subsequently, we found 2 more families with a similar calf-predominant myopathy segregating with unique RYR1-mutated alleles. All patients showed a very slowly progressive myopathy without episodes of malignant hyperthermia or rhabdomyolysis. Muscle biopsy showed cores or core-like changes in all families. Conclusions Our findings expand the spectrum of RYR1-related disorders to include a calf-predominant myopathy with core pathology and autosomal dominant inheritance. Two families had unique and previously unreported RYR1 mutations, while affected persons in the third family carried 2 previously known mutations in the same dominant allele. ; Peer reviewed |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| Relation: |
The study was supported by grants from the Finnish Academy, the Juselius Foundation, and the Competitive State Research Financing of the Expert Responsibility area of Tampere University Hospital.; Jokela , M , Tasca , G , Vihola , A , Mercuri , E , Jonson , P-H , Lehtinen , S , Välipakka , S , Pane , M , Donati , M , Johari , M , Savarese , M , Huovinen , S , Isohanni , P , Palmio , J , Hartikainen , P & Udd , B 2019 , ' An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy ' , Neurology , vol. 92 , no. 14 , pp. E1600-E1609 . https://doi.org/10.1212/WNL.0000000000007246; ORCID: /0000-0002-9197-1288/work/63685171; ORCID: /0000-0002-3549-558X/work/63686355; ORCID: /0000-0002-2591-244X/work/127008838; http://hdl.handle.net/10138/326362; 046c58e8-c807-4aea-83fb-2b8e7cdd8c6b; 000480758600007 |
| الاتاحة: |
http://hdl.handle.net/10138/326362 |
| Rights: |
info:eu-repo/semantics/openAccess ; openAccess |
| رقم الانضمام: |
edsbas.9C5AB4C |
| قاعدة البيانات: |
BASE |