Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms

Muscle and Nerve

Volumn 44, Issue 1, 2011, Pages 102-108

  Duarte, Sofia T ^a,b   Oliveira, Jorge ^c   Santos, Rośrio ^c   Pereira, Pedro ^d,e   Barroso, Cândida ^d,e   Conceição, Isabel ^d,e   Evangelista, Teresinha ^d,e  

^a HOSPITAL DONA ESTEFÂNIA   (Portugal)

^b NOVA MEDICAL SCHOOL   (Portugal)

^c NATIONAL INSTITUTE OF HEALTH   (Portugal)

^d HOSPITAL DE SANTA MARIA   (Portugal)

^e INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

Author keywords

Adult presentation; Central core disease; Malignant hyperthermia; Multiminicore disease; RYR1

Indexed keywords

ANESTHETIC AGENT; RYANODINE RECEPTOR 1; SUXAMETHONIUM;

ADULT; ADULT DISEASE; ANESTHESIA COMPLICATION; ARTICLE; CARDIOPULMONARY INSUFFICIENCY; CENTRAL CORE DISEASE; CLINICAL ARTICLE; CLINICAL EVALUATION; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DOMINANT INHERITANCE; DRUG FATALITY; FEMALE; GENE MUTATION; GENERAL ANESTHESIA; GENETIC ANALYSIS; HETEROZYGOSITY; HISTOLOGY; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MALIGNANT HYPERTHERMIA; MULTIMINICORE DISEASE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE DISEASE; MYALGIA; ONSET AGE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RHABDOMYOLYSIS; UNSPECIFIED SIDE EFFECT;

EID: 79959308950     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22009     Document Type: Article

References (36)

1. Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 2006;27:977-989.
2. Jungbluth H. Central core disease. Orphanet J Rare Dis 2007;2-25.
3. Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscle dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002;71:739-749.
4. Jungbluth H, Muller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, et al. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 2002;59:284-287.
5. Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, et al. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 2005;65:1930-1935.
6. Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. Hum Mol Genet 2003;12:1171-1178.
7. Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, et al. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol 2002;51:750-759.
8. Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, et al. Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. Arch Neurol 2004;61:106-113.
9. Koch BM, Bertorini TE, Eng GD, Boehm R. Severe multicore disease associated with reaction to anaesthesia. Arch Neurol 1985;42:1204-1206.
10. Osada H, Masuda K, Seki K, Sekiya S. Multi-minicore disease with susceptibility to malignant hyperthermia in pregnancy. Gynecol Obstet Invest 2004;58:32-35.
11. Jungbluth H. Multi-minicore disease. Orphanet J Rare Dis 2007;2:31.
12. Isaacs H, Badenhorst M. Multicore disease. S Afr Med J 1980;57:543-546.
13. Zeman A, Dick D, Anderson M, Watkin S, Smith I, Shneerson J. Multicore myopathy presenting in adulthood with respiratory failure. Muscle Nerve 1997;20:367-369.
14. Sobreira C, Marques W Jr, Barreira AA. Myalgia as the revealing symptom of multicore disease and fiber type disproportion myopathy. J Neurol Neurosurg Psychiatry 2003;74:1317-1319.
15. Pietrini V, Marbini A, Galli L, Sorrentino V. Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene. J Neurol 2004;251:102-104.
16. Dubowitz V, Sewry CA. Muscle biopsy. A practical approach, 3rd edition. Vol. 2. Philadelphia: Saunders Elsevier; 2007. p 21-39.
17. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
18. Larkin MA, Blackshields G, Brown NP, Chenna R, McGettigan PA, McWilliam H, et al. Clustal W and Clustal X version 2.0. Bioinformatics 2007;23:2947-2948.
19. Shepherd S, Ellis F, Halsall J, Hopkins P, Robinson R. RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet 2004;41:e33.
20. Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, et al. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics 1992;13:1247-1254.
21. Talwalkar SS, Parker JR, Heffner RR, Parker JC. Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature. Clin Neuropathol 2006;25:180-184.
22. Jungbluth H, Lillis S, Zhou H, Abbs S, Sewry C, Swash M, et al. Lateonset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2009;19:344-347.
23. Bonnette H, Roelofs R, Olson WH. Multicore disease: report of a case with onset in the middle age. Neurology 1974;24:1039-1044.
24. Mertz KD, Jost B, Glatzel M, Min K. Progressive scoliosis in central core disease. Eur Spine J 2005;14:900-905.
25. Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, et al. Central core disease: clinical, pathological and genetic features. Arch Dis Child 2003;88:1051-1055.
26. Scola RS, Lin K, Iwamoto FM, Arruda WO, Werneck LC. Ankylosing spondylitis and central core disease. Arq Neuropsiquiatr 2003;61:687-690.
27. Sewry CA, Müller C, Davis M, Dwyer JS, Dove J, Evans G, et al. The spectrum of pathology in central core disease. Neuromuscul Disord 2002;12:930-938.
28. Perng MD, Cairns L, van den Ijssel P, Prescott A, Hutcheson AM, Quinlan RA. Intermediate filament interactions can be altered by HSP27 and ab crystallin. J Cell Sci 1999;112:2099-2112.
29. Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, et al. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain 2006;129:1470-1480.
30. Perez CF, Mukherjee S, Allen PD. Amino acids 1-1,680 of ryanodine receptor type 1 hold critical determinants of skeletal type for excitation- contraction coupling. Role of divergence domain D2. J Biol Chem 2003;278:39644-39652.
31. Ibarra MCA, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, et al. Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology 2006;104:1146-1154.
32. Ponting CP. Novel repeats in ryanodine and IP3 receptors and protein O-mannosyltransferases. Trends Biochem Sci 2000;25:48-50.
33. Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, et al. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain 2003;126:2341-2349.
34. Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, et al. Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet 2006;15:2791-2803.
35. Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, et al. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat 2008;29:670-678.
36. Carpenter D, Ismail A, Robinson RL, Ringrose C, Booms P, Iles DE, et al. A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. Muscle Nerve 2009;40:633-639.