Ryanodine myopathies without central cores - Clinical, histopathologic, and genetic description of three cases

Pediatric Neurology

Volumn 51, Issue 2, 2014, Pages 275-278

  Rocha, João ^a   Taipa, Ricardo ^b   Melo Pires, Manuel ^b   Oliveira, Jorge ^c   Santos, Rosário ^c   Santos, Manuela ^b  

^a HOSPITAL DE BRAGA   (Portugal)

^b Institute of Biomedical Sciences Abel Salazar   (Portugal)

^c UP   (Portugal)

Author keywords

muscle biopsy; myopathy; ryanodine receptor; RYR1

Indexed keywords

COMPLEMENTARY DNA; CREATINE KINASE MM; RYANODINE RECEPTOR 1; RYANODINE RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; DISEASE COURSE; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MYOPATHY; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; YOUNG ADULT; GENETICS; MUSCLE DISEASE; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

ADOLESCENT; CHILD; FEMALE; HUMANS; MALE; MUSCULAR DISEASES; PHENOTYPE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84904917108     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.04.024     Document Type: Article

References (14)

1. K.A. Quane, J.M. Healy, and K.E. Keating et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia Nat Genet 5 1993 51 55
2. H. Jungbluth, C.A. Sewry, and F. Muntoni Core myopathies Semin Pediatr Neurol 18 2011 239 249
3. Klein A, Suzanne L, Munteanu L, et al. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Human Mutation;00:1-8.
4. K. Amburgey, A. Bailey, and J.H. Hwang et al. Genotype-phenotype correlations in recessive RYR1-related myopathies Orphanet J Rare Dis 8 2013 117
5. N. Dlamini, N.C. Voermans, and S. Lillis et al. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis Neuromuscular Disorders 23 2013 540 548
6. S. Løseth, N.C. Voermans, and T. Torbergsen et al. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene J Neurol 260 2013 1504 1510
7. C.A. Sewry, C. Muller, and M. Davis et al. The spectrum of pathology in central core disease Neuromuscul Disord 12 2002 930 938
8. H. Zhou, H. Jungbluth, and C.A. Sewry et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies Brain 130 2007 2024 2036
9. S Gambelli, A Malandrini, and G Berti et al. Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 Clin Genet. 71 2007 93 94
10. I. Sato, S. Wu, and C.A. Ibarra et al. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation Neurology 70 2008 114 122
11. H. Jungbluth, H. Zhou, and C.A. Sewry et al. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene Neuromuscul Disord 17 2007 338 345
12. J.M. Wilmshurst, S. Lillis, and H. Zhou et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei Ann Neurol 68 2010 717 726 10.1002/ana.22119
13. P.M. Kossugue, J.F. Paim, and M.M. Navarro et al. Central core disease due to recessive mutations in RYR1 gene: is it more common than described? Muscle Nerve 35 2007 670 674
14. H. Zhou, M. Brockington, and H. Jungbluth et al. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies Am J Hum Genet 79 2006 859 868