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Open Access 01-12-2015 | Review

Rhabdomyolysis: a genetic perspective

Authors: Renata Siciliani Scalco, Alice R Gardiner, Robert DS Pitceathly, Edmar Zanoteli, Jefferson Becker, Janice L Holton, Henry Houlden, Heinz Jungbluth, Ros Quinlivan

Published in: Orphanet Journal of Rare Diseases | Issue 1/2015

Abstract

Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure. Apart from trauma, a wide range of causes have been reported including drug abuse and infections. Underlying genetic disorders are also a cause of RM and can often pose a diagnostic challenge, considering their marked heterogeneity and comparative rarity.

In this paper we review the range of rare genetic defects known to be associated with RM. Each gene has been reviewed for the following: clinical phenotype, typical triggers for RM and recommended diagnostic approach. The purpose of this review is to highlight the most important features associated with specific genetic defects in order to aid the diagnosis of patients presenting with hereditary causes of recurrent RM.

Chatzizisis YS, Misirli G, Hatzitolios AI, Giannoglou GD. The syndrome of rhabdomyolysis: complications and treatment. Eur J Intern Med. 2008;19(8):568–74.PubMed

Zutt R, van der Kooi AJ, Linthorst GE, Wanders RJ, de Visser M. Rhabdomyolysis: review of the literature. Neuromuscul Disord. 2014;24(8):651–9.PubMed

Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, et al. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord. 2013;23(7):540–8.PubMed

Molenaar JP, Voermans NC, van Hoeve BJ, Kamsteeg EJ, Kluijtmans LA, Kusters B, et al. Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene. Intern Med J. 2014;44(8):819–20.PubMed

Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med. 2014;370(6)):533–42.PubMedCentralPubMed

Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C. McArdle disease: molecular genetic update. Acta Myol. 2007;26(1):53–7.PubMedCentralPubMed

Vieitez I, Teijeira S, Fernandez JM, San Millan B, Miranda S, Ortolano S, et al. Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations. Neuromuscul Disord. 2011;21(12):817–23.PubMed

Quinlivan R, Jungbluth H. Myopathic causes of exercise intolerance with rhabdomyolysis. Dev Med Child Neurol. 2012;54(10):886–91.PubMed

Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, et al. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry. 2010;81(11):1182–8.PubMed

10.

Nogales-Gadea G, Arenas J, Andreu AL. Molecular genetics of McArdle’s disease. Curr Neurol Neurosci Rep. 2007;7(1):84–92.PubMed

11.

Braakhekke JP, de Bruin MI, Stegeman DF, Wevers RA, Binkhorst RA, Joosten EM. The second wind phenomenon in McArdle’s disease. Brain. 1986;109(Pt 6):1087–101.PubMed

12.

Scalco RS, Chatfield S, Godfrey R, Pattni J, Ellerton C, Beggs A, et al. From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease. Arq Neuropsiquiatr. 2014;72(7):538–41.PubMed

13.

Brady S, Godfrey R, Scalco RS, Quinlivan R. Emotionally-intense situations can result in rhabdomyolysis in McArdle disease. BMJ Case Rep, 2014.

14.

Lucia A, Nogales-Gadea G, Pérez M, Martín MA, Andreu AL, Arenas J. McArdle disease: what do neurologists need to know? Nat Clin Pract Neurol. 2008;4(10):568–77.PubMed

15.

Goebel H, Sewry C, Weller R. Muscle disease: pathology and genetics. 2nd ed. London: Wiley-Blackwell; 2013. p. 375.

16.

Vissing J, Haller RG. A diagnostic cycle test for McArdle’s disease. Ann Neurol. 2003;54(4):539–42.PubMed

17.

Kazemi-Esfarjani P, Skomorowska E, Jensen TD, Haller RG, Vissing J. A nonischemic forearm exercise test for McArdle disease. Ann Neurol. 2002;52(2):153–9.PubMed

18.

DiMauro S, Lamperti C. Muscle glycogenoses. Muscle Nerve. 2001;24(8):984–99.PubMed

19.

Malfatti E, Birouk N, Romero NB, Piraud M, Petit FM, Hogrel JY, et al. Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency. J Neurol Sci. 2012;316(1–2):173–7.PubMed

20.

Musumeci O, Bruno C, Mongini T, Rodolico C, Aguennouz M, Barca E, et al. Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). Neuromuscul Disord. 2012;22(4):325–30.PubMed

21.

Kreuder J, Borkhardt A, Repp R, Pekrun A, Göttsche B, Gottschalk U, et al. Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. N Engl J Med. 1996;334(17):1100–4.PubMed

22.

Yao DC, Tolan DR, Murray MF, Harris DJ, Darras BT, Geva A, et al. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). Blood. 2004;103(6):2401–3.PubMed

23.

Mamoune A, Bahuau M, Hamel Y, Serre V, Pelosi M, Habarou F, et al. A thermolabile aldolase a mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia. PLoS Genet. 2014;10(11):e1004711.PubMedCentralPubMed

24.

Kopp A, Bistrian BR. Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. N Engl J Med. 1996;335(16):1242–3.PubMed

25.

Esposito G, Vitagliano L, Cevenini A, Amelio T, Zagari A, Salvatore F. Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child. Blood. 2005;105(2):905–6.PubMed

26.

Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, et al. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann Neurol. 2001;50(2):202–7.PubMed

27.

Musumeci O, Brady S, Rodolico C, Ciranni A, Montagnese F, Aguennouz M, et al. Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated? J Neurol. 2014;261(12):2424–8.PubMed

28.

Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Muscle phosphoglycerate mutase deficiency revisited. Arch Neurol. 2009;66(3):394–8.PubMed

29.

Oh SJ, Park KS, Ryan Jr HF, Danon MJ, Lu J, Naini AB, et al. Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency. Muscle Nerve. 2006;34(5):572–6.PubMed

30.

Salameh J, Goyal N, Choudry R, Camelo-Piragua S, Chong PS. Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama. Muscle Nerve. 2013;47(1):138–40.PubMed

31.

Tonin P, Bruno C, Cassandrini D, Savio C, Tavazzi E, Tomelleri G, et al. Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. Neuromuscul Disord. 2009;19(11):776–8.PubMed

32.

Vissing J, Quistorff B, Haller RG. Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency. Arch Neurol. 2005;62(9):1440–3.PubMed

33.

DiMauro S, Dalakas M, Miranda AF. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. Ann Neurol. 1983;13(1):11–9.PubMed

34.

Fermo E, Bianchi P, Chiarelli LR, Maggi M, Mandarà GM, Vercellati C, et al. A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization. Mol Genet Metab. 2012;106(4):455–61.PubMed

35.

Rosa R, George C, Fardeau M, Calvin MC, Rapin M, Rosa J. A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. Blood. 1982;60(1):84–91.PubMed

36.

Spiegel R, Gomez EA, Akman HO, Krishna S, Horovitz Y, DiMauro S. Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations. Neuromuscul Disord. 2009;19(3):207–11.PubMed

37.

Hamano T, Mutoh T, Sugie H, Koga H, Kuriyama M. Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation. Neurology. 2000;54(5):1188–90.PubMed

38.

Stojkovic T, Vissing J, Petit F, Piraud M, Orngreen MC, Andersen G, et al. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med. 2009;361(4):425–7.PubMed

39.

Marquardt T, Morava E, Rust S. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med. 2014;370(21):2051–2.PubMed

40.

Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, et al. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Mol Genet Metab. 2014;111(3):309–13.PubMedCentralPubMed

41.

Berg JM, Tymoczko JL, Stryer L. Phosphorylase is regulated by allosteric interactions and reversible phosphorylation. In: Biochemistry. New York: W H Freeman; 2002.

42.

Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, et al. Glycogen storage disease type IX: high variability in clinical phenotype. Mol Genet Metab. 2007;92(1–2):88–99.PubMed

43.

Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, et al. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Eur J Hum Genet. 2003;11(7):516–26.PubMed

44.

Preisler N, Orngreen MC, Echaniz-Laguna A, Laforet P, Lonsdorfer-Wolf E, Doutreleau S, et al. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Neurology. 2012;78(4):265–8.

45.

Bruno C, Manfredi G, Andreu AL, Shanske S, Krishna S, Ilse WK, et al. A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. Biochem Biophys Res Commun. 1998;249(3):648–51.PubMed

46.

Wuyts W, Reyniers E, Ceuterick C, Storm K, de Barsy T, Martin JJ, et al. Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. Am J Med Genet A. 2005;133a(1):82–4.PubMed

47.

Diedrich DA, Brown DR. Analytic reviews: propofol infusion syndrome in the ICU. J Intensive Care Med. 2011;26(2):59–72.PubMed

48.

Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 1999;64(2):479–94.PubMedCentralPubMed

49.

Antunes AP, Nogueira C, Rocha H, Vilarinho L, Evangelista T, et al. Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene. J Clin Neuromuscul Dis. 2013;15(2):69–72.PubMed

50.

Laforet P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, et al. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord. 2009;19(5):324–9.PubMed

51.

Ogilvie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM. Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology. 1994;44(3 Pt 1):467–73.PubMed

52.

Angelini C. Spectrum of metabolic myopathies. Biochim Biophys Acta. 2015;1852(4):615–21.

53.

Fanin M, Anichini A, Cassandrini D, Fiorillo C, Scapolan S, Minetti C, et al. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. Clin Genet. 2012;82(3):232–9.PubMed

54.

Liang WC, Nishino I. State of the art in muscle lipid diseases. Acta Myol. 2010;29(2):351–6.PubMedCentralPubMed

55.

Hogan KJ, Vladutiu GD. Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. Anesth Analg. 2009;109(4):1070–2.PubMed

56.

Thuillier L, Rostane H, Droin V, Demaugre F, Brivet M, Kadhom N, et al. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. Hum Mutat. 2003;21(5):493–501.PubMed

57.

Grunert SC. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet J Rare Dis. 2014;9:117.PubMedCentralPubMed

58.

Izumi R, Suzuki N, Nagata M, Hasegawa T, Abe Y, Saito Y, et al. A case of late onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting as recurrent rhabdomyolysis and acute renal failure. Intern Med. 2011;50(21):2663–8.PubMed

59.

Prasad M, Hussain S. Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager. J Child Neurol. 2015;30(1):96–9.PubMed

60.

Rosenbohm A, Süssmuth SD, Kassubek J, Müller HP, Pontes C. Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II. Muscle Nerve. 2014;49(3):446–50.

61.

Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C. Electron transfer flavoprotein deficiency: functional and molecular aspects. Mol Genet Metab. 2006;88(2):153–8.PubMed

62.

Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, et al. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain. 2012;135(Pt 11):3404–15.PubMedCentralPubMed

63.

Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, Sue CM, et al. A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Ann Neurol. 1999;45(1):127–30.PubMed

64.

Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med. 1999;341(14):1037–44.PubMed

65.

Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, et al. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. Neurology. 2000;55(5):644–9.PubMed

66.

Hoffbuhr KC, Burton MD, Salas VM, Johnston WS, Penn AM, et al. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet. 1996;12(4):410–6.PubMed

67.

Kollberg G, Melberg A, Holme E, Oldfors A. Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy. Neuromuscul Disord. 2011;21(2):115–20.PubMed

68.

Liewluck T, Mundi MS, Mauermann ML. Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis. Muscle Nerve. 2013;48(6):989–91.PubMed

69.

Marotta R, Chin J, Kirby DM, Chiotis M, Cook M, Collins SJ. Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis. J Clin Neurosci. 2011;18(2):290–2.PubMed

70.

McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM, et al. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscul Disord. 2004;14(2):162–6.PubMed

71.

Vissing CR, Duno M, Olesen JH, Rafiq J, Risom L, Christensen E, et al. Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene. Neurology. 2013;80(20):1908–10.PubMed

72.

Vanlander AV, Jorens PG, Smet J, De Paepe B, Verbrugghe W, Van den Eynden GG, et al. Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome. Acta Anaesthesiol Scand. 2012;56(4):520–5.PubMed

73.

Savard M, Dupré N, Turgeon AF, Desbiens R, Langevin S, Brunet D. Propofol-related infusion syndrome heralding a mitochondrial disease: case report. Neurology. 2013;81(8):770–1.PubMedCentralPubMed

74.

Rosenberg H, Davis M, James D, Pollock N, Stowell K. Malignant hyperthermia. Orphanet J Rare Dis. 2007;2:21.PubMedCentralPubMed

75.

Jungbluth H, Sewry CA, Muntoni F. Core myopathies. Semin Pediatr Neurol. 2011;18(4):239–49.PubMed

76.

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(12):1930–5.PubMed

77.

Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010;68(5):717–26.PubMed

78.

Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, et al. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010;31(7):E1544–50.PubMed

79.

Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, et al. King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2011;21(6):420–7.PubMed

80.

Loseth S, Voermans NC, Torbergsen T, Lillis S, Jonsrud C, Lindal S, et al. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013;260(6):1504–10.PubMed

81.

Carsana A. Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations. Sci World J. 2013;2013:531465.

82.

Lindberg C, Sixt C, Oldfors A. Episodes of exercise-induced dark urine and myalgia in LGMD 2I. Acta Neurol Scand. 2012;125(4):285–7.PubMed

83.

Ceravolo F, Messina S, Rodolico C, Strisciuglio P, Concolino D. Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy. Eur J Pediatr. 2014;173(2):239–42.PubMed

84.

Moody S, Mancias P. Dysferlinopathy presenting as rhabdomyolysis and acute renal failure. J Child Neurol. 2013;28(4):502–5.PubMed

85.

Lahoria R, Winder TL, Lui J, Al-Owain MA, Milone M. Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man. Muscle Nerve. 2014;50(4):610–3.PubMed

86.

Milone M, Liewluck T, Winder TL, Pianosi PT. Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul Disord. 2012;22(1):13–5.PubMed

87.

Cagliani R, Comi GP, Tancredi L, Sironi M, Fortunato F, Giorda R, et al. Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscul Disord. 2001;11(4):389–94.PubMed

88.

Mathews KD, Stephan CM, Laubenthal K, Winder TL, Michele DE, Moore SA, et al. Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. Neurology. 2011;76(2):194–5.PubMedCentralPubMed

89.

Nakazato A, Shime H, Morooka K, Nonaka I, Takagi A. Anesthesia-induced rhabdomyolysis in a patient with Fukuyama-type congenital muscular dystrophy. No To Hattatsu. 1984;16(5):386–92.PubMed

90.

Veyckemans F. Can inhalation agents be used in the presence of a child with myopathy? Curr Opin Anaesthesiol. 2010;23(3):348–55.PubMed

91.

Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller-Felber W, et al. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat. 2010;31(7):E1564–73.PubMed

92.

Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, et al. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis. 2012;35(6):1119–28.PubMed

93.

Bergounioux J, Brassier A, Rambaud C, Bustarret O, Michot C, Hubert L, et al. Fatal rhabdomyolysis in 2 children with LPIN1 mutations. J Pediatr. 2012;160(6):1052–4.PubMed

94.

Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, et al. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am J Hum Genet. 2008;83(4):489–94.PubMedCentralPubMed

95.

Muller-Felber W, Zafiriou D, Scheck R, Pätzke I, Toepfer M, Pongratz DE, et al. Marinesco Sjogren syndrome with rhabdomyolysis. A new subtype of the disease. Neuropediatrics. 1998;29(2):97–101.PubMed

96.

Superneau DW, Wertelecki W, Zellweger H, Bastian F. Myopathy in Marinesco-Sjogren syndrome. Eur Neurol. 1987;26(1):8–16.PubMed

97.

Merlini L, Gooding R, Lochmüller H, Müller-Felber W, Walter MC, Angelicheva D, et al. Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Neurology. 2002;58(2):231–6.PubMed

98.

Barth PG, Ryan MM, Webster RI, Aronica E, Kan A, Ramkema M, et al. Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2). Neuromuscul Disord. 2008;18(1):52–8.PubMed

99.

Zafeiriou DI, Ververi A, Tsitlakidou A, Anastasiou A, Vargiami E. Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. Neuromuscul Disord. 2013;23(2):116–9.PubMed

100.

Deuster PA, Contreras-Sesvold CL, O’Connor FG, Campbell WW, Kenney K, Capacchione JF, et al. Genetic polymorphisms associated with exertional rhabdomyolysis. Eur J Appl Physiol. 2013;113(8):1997–2004.PubMed

101.

Heled Y, Bloom MS, Wu TJ, Stephens Q, Deuster PA, et al. CK-MM and ACE genotypes and physiological prediction of the creatine kinase response to exercise. J Appl Physiol (1985). 2007;103(2):504–10.

102.

Yamin C, Amir O, Sagiv M, Attias E, Meckel Y, Eynon N, et al. ACE ID genotype affects blood creatine kinase response to eccentric exercise. J Appl Physiol (1985). 2007;103(6):2057–61.

103.

Orysiak J, Sitkowski D, Zmijewski P, Malczewska-Lenczowska J, Cieszczyk P, Zembron-Lacny A, et al. Overrepresentation of the ACTN3 XX genotype in elite canoe and kayak paddlers. J Strength Cond Res. 2015;29(4):1107–12.PubMed

104.

Clarkson PM, Hoffman EP, Zambraski E, Gordish-Dressman H, Kearns A, Hubal M, et al. ACTN3 and MLCK genotype associations with exertional muscle damage. J Appl Physiol (1985). 2005;99(2):564–9.

105.

Devaney JM, Hoffman EP, Gordish-Dressman H, Kearns A, Zambraski E, Clarkson PM. IGF-II gene region polymorphisms related to exertional muscle damage. J Appl Physiol (1985). 2007;102(5):1815–23.

106.

Hubal MJ, Devaney JM, Hoffman EP, Zambraski EJ, Gordish-Dressman H, Kearns AK, et al. CCL2 and CCR2 polymorphisms are associated with markers of exercise-induced skeletal muscle damage. J Appl Physiol (1985). 2010;108(6):1651–8.

107.

Yamin C, Duarte JA, Oliveira JM, Amir O, Sagiv M, Eynon N, et al. IL6 (−174) and TNFA (−308) promoter polymorphisms are associated with systemic creatine kinase response to eccentric exercise. Eur J Appl Physiol. 2008;104(3):579–86.PubMed

108.

Cabrera M, Ghaoui R, Mourdant D, Lamont PJ, Clarke N, Laing NG. T.P.33. Clinical and genetic characterization of patients with repeated rhabdomyolysis. Neuromuscul Disord. 2014;24(9):874.

109.

Scalco RS, Pitceathly RDS, Gardiner A, Woodward C, Polke JM, Sweeney MG, et al. G.P.22. Utilising next-generation sequencing to determine the genetic basis of recurrent rhabdomyolysis. Neuromuscul Disord. 2014;24(9):801.

110.

Giannoglou GD, Chatzizisis YS, Misirli G. The syndrome of rhabdomyolysis: pathophysiology and diagnosis. Eur J Intern Med. 2007;18(2):90–100.PubMed

111.

Jhawar M, George P, Pawar B. Salmonella typhi sepsis and rhabdomyolysis with acute renal failure: a rare presentation of a common disease. Saudi J Kidney Dis Transpl. 2010;21(4):732–4.PubMed

112.

Khan FY. Rhabdomyolysis: a review of the literature. Neth J Med. 2009;67(9):272–83.PubMed

113.

Toprak O, Kaptan F, Cirit M, Ormen B, Uzum A, Ersoy R, et al. Recurrent rhabdomyolysis and mild acute renal failure associated with acute Brucella infection. Nephrol Dial Transplant. 2005;20(4):848–9.PubMed

114.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, et al. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Eur J Hum Genet. 2014;22(7):902–6.PubMedCentralPubMed

Title: Rhabdomyolysis: a genetic perspective
Authors: Renata Siciliani Scalco
Alice R Gardiner
Robert DS Pitceathly
Edmar Zanoteli
Jefferson Becker
Janice L Holton
Henry Houlden
Heinz Jungbluth
Ros Quinlivan
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2015
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-015-0264-3

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Rhabdomyolysis: a genetic perspective

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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Other articles of this Issue 1/2015

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Phenotypic and molecular insights into CASK-related disorders in males

Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study