A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Journal of Neurology

Volumn 260, Issue 6, 2013, Pages 1504-1510

  Løseth, Sissel ^a,b   Voermans, Nicol C ^c   Torbergsen, Torberg ^a   Lillis, Sue ^d   Jonsrud, Christoffer ^a   Lindal, Sigurd ^a,b   Kamsteeg, Erik Jan ^c   Lammens, Martin ^c   Broman, Marcus ^e   Dekomien, Gabriele ^f   Maddison, Paul ^g   Muntoni, Francesco ^h   Sewry, Caroline ^h   Radunovic, Aleksandar ^j   De Visser, Marianne ^k   Straub, Volker ^l   Van Engelen, Baziel ^c   Jungbluth, Heinz ^i,m  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^b UNIVERSITY OF TROMSØ   (Norway)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d DNA Laboratory   (United Kingdom)

^e LUND UNIVERSITY HOSPITAL   (Sweden)

^f RUHR UNIVERSITY BOCHUM   (Germany)

^g NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ ST THOMAS HOSPITAL   (United Kingdom)

^j ROYAL LONDON HOSPITAL   (United Kingdom)

^k ACADEMIC MEDICAL CENTER   (Netherlands)

^l NEWCASTLE UNIVERSITY   (United Kingdom)

^m KING'S COLLEGE LONDON   (United Kingdom)

more..

Author keywords

Axial myopathy; Camptocormia; Malignant hyperthermia susceptibility (MHS); RYR1 mutations; Skeletal muscle ryanodine receptor (RYR1) gene

Indexed keywords

CREATINE KINASE; RYANODINE RECEPTOR 1;

ARTICLE; AXIAL MYOPATHY; BODY POSTURE; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; FIBER; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRAIT; GENETIC VARIABILITY; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; LORDOSIS; LUMBAR HYPERLORDOSIS; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MUSCLE BIOPSY; MYALGIA; MYOPATHY; PRIORITY JOURNAL; SKELETAL MUSCLE; THIGH;

ADULT; AGE OF ONSET; AGED; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MALIGNANT HYPERTHERMIA; MIDDLE AGED; MUSCULAR DISEASES; MUTATION; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84878881214     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6817-7     Document Type: Article

References (22)

1. Rosenberg H, Rueffert H (2011) Clinical utility gene card for: malignant hyperthermia. Eur J Hum Genet 19(6) doi: 10.1038/ejhg.2010.248
2. Jungbluth H, Sewry CA, Muntoni F (2011) Core myopathies. Semin Pediatr Neurol 18(4):239-249
3. Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Muller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H (2010) RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 68(5):717-726
4. Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN (2010) Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat 31(7):E1544-1550. doi: 10.1002/humu.21278
5. Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F (2012) Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat 33(6):981-988
6. Jungbluth H, Lillis S, Zhou H, Abbs S, Sewry C, Swash M, Muntoni F (2009) Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 19(5):344-347
7. Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P (2006) Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 27(10):977-989 (Pubitemid 44454050)
8. Broman M, Gehrig A, Islander G, Bodelsson M, Ranklev-Twetman E, Ruffert H, Muller CR (2009) Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases. Br J Anaesth 102(5):642-649
9. Groom L, Muldoon SM, Tang ZZ, Brandom BW, Bayarsaikhan M, Bina S, Lee HS, Qiu X, Sambuughin N, Dirksen RT (2011) Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families. Anesthesiology 115(5):938-945
10. Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F (2011) Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol 68(9):1171-1179
11. Jungbluth H, Davis MR, Muller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F (2004) Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 14(12):785-790 (Pubitemid 39572398)
12. Renard D, Castelnovo G, Fernandez C, De Paula AM, Penttila S, Suominen T, Udd B (2012) Camptocormia as presenting sign in myofibrillar myopathy. Neuromuscul Disord 22(11):987-989
13. Lenoir T, Guedj N, Boulu P, Guigui P, Benoist M (2010) Camptocormia: the bent spine syndrome, an update. Eur Spine J 19(8):1229-1237
14. Laroche M, Delisle MB, Aziza R, Lagarrigue J, Mazieres B (1995) Is camptocormia a primary muscular disease? Spine 20(9):1011-1016
15. Laroche M, Cintas P (2010) Bent spine syndrome (camptocormia): a retrospective study of 63 patients. Joint Bone Spine 77(6):593-596
16. Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, Jungbluth H (2011) King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 21(6):420-427
17. Sambuughin N, Capacchione J, Blokhin A, Bayarsaikhan M, Bina S, Muldoon S (2009) The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. Clin Genet 76(6):564-568
18. Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, Lunardi J, Cozzone PJ, Pellissier JF (2004) Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. Arch Neurol 61(1):106-113 (Pubitemid 38067421)
19. Rosenberg H, Davis M, James D, Pollock N, Stowell K (2007) Malignant hyperthermia. Orphanet J Rare Dis 2:21
20. Andersson DC, Betzenhauser MJ, Reiken S, Meli AC, Umanskaya A, Xie W, Shiomi T, Zalk R, Lacampagne A, Marks AR (2011) Ryanodine receptor oxidation causes intracellular calcium leak and muscle weakness in aging. Cell Metab 14(2):196-207
21. Dowling JJ, Arbogast S, Hur J, Nelson DD, McEvoy A, Waugh T, Marty I, Lunardi J, Brooks SV, Kuwada JY, Ferreiro A (2012) Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain 135(Pt 4):1115-1127
22. Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A (2009) Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol 65(6):677-686