Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

N Dlamini; NC (Nicol) Voermans; S Lillis; K Stewart; EJ Kamsteeg; G Drost; R Quinlivan; M Snoeck; F Norwood; A Radunbvic; V Straub; M Roberts; AFJE Vrancken; WL van der Pol; IFM Coo; AY Manzur; S Yau; S Abbs; A King; M Lammens; PM Hopkins; S Mohammed; S Treves; F Muntoni; E Wraige; MR Davis; B van Engelen; H Jungbluth

doi:10.1016/j.nmd.2013.03.008

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

N Dlamini, NC (Nicol) Voermans, S Lillis, K Stewart, EJ Kamsteeg, G Drost, R Quinlivan, M Snoeck, F Norwood, A Radunbvic, V Straub, M Roberts, AFJE Vrancken, WL van der Pol, IFM Coo, AY Manzur, S Yau, S Abbs, A King, M LammensPM Hopkins, S Mohammed, S Treves, F Muntoni, E Wraige, MR Davis, B van Engelen, H Jungbluth

Neurology

Research output: Contribution to journal › Article › Academic › peer-review

143 Citations (Scopus)

Abstract

Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of neuromuscular disease, ranging from various congenital myopathies to the malignant hyperthermia (MH) susceptibility trait without associated weakness. We sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia, frequent presentations in the neuromuscular clinic that often remain unexplained despite extensive investigations. We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys I 393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with M H. Index cases presented from 3 to 45 years with rhabdomyolysis, with or without exertional myalgia (n

Original language	Undefined/Unknown
Pages (from-to)	540-548
Number of pages	9
Journal	Neuromuscular Disorders
Volume	23
Issue number	7
DOIs	https://doi.org/10.1016/j.nmd.2013.03.008
Publication status	Published - 2013

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10.1016/j.nmd.2013.03.008

http://hdl.handle.net/1765/40171

Cite this

Dlamini, N., Voermans, NC., Lillis, S., Stewart, K., Kamsteeg, EJ., Drost, G., Quinlivan, R., Snoeck, M., Norwood, F., Radunbvic, A., Straub, V., Roberts, M., Vrancken, AFJE., van der Pol, WL., Coo, IFM., Manzur, AY., Yau, S., Abbs, S., King, A., ... Jungbluth, H. (2013). Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscular Disorders, 23(7), 540-548. https://doi.org/10.1016/j.nmd.2013.03.008

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title = "Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis",

abstract = "Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of neuromuscular disease, ranging from various congenital myopathies to the malignant hyperthermia (MH) susceptibility trait without associated weakness. We sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia, frequent presentations in the neuromuscular clinic that often remain unexplained despite extensive investigations. We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys I 393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with M H. Index cases presented from 3 to 45 years with rhabdomyolysis, with or without exertional myalgia (n",

author = "N Dlamini and Voermans, {NC (Nicol)} and S Lillis and K Stewart and EJ Kamsteeg and G Drost and R Quinlivan and M Snoeck and F Norwood and A Radunbvic and V Straub and M Roberts and AFJE Vrancken and {van der Pol}, WL and IFM Coo and AY Manzur and S Yau and S Abbs and A King and M Lammens and PM Hopkins and S Mohammed and S Treves and F Muntoni and E Wraige and MR Davis and {van Engelen}, B and H Jungbluth",

year = "2013",

doi = "10.1016/j.nmd.2013.03.008",

language = "Undefined/Unknown",

volume = "23",

pages = "540--548",

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Dlamini, N, Voermans, NC, Lillis, S, Stewart, K, Kamsteeg, EJ, Drost, G, Quinlivan, R, Snoeck, M, Norwood, F, Radunbvic, A, Straub, V, Roberts, M, Vrancken, AFJE, van der Pol, WL, Coo, IFM, Manzur, AY, Yau, S, Abbs, S, King, A, Lammens, M, Hopkins, PM, Mohammed, S, Treves, S, Muntoni, F, Wraige, E, Davis, MR, van Engelen, B & Jungbluth, H 2013, 'Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis', Neuromuscular Disorders, vol. 23, no. 7, pp. 540-548. https://doi.org/10.1016/j.nmd.2013.03.008

TY - JOUR

T1 - Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

AU - Dlamini, N

AU - Voermans, NC (Nicol)

AU - Lillis, S

AU - Stewart, K

AU - Kamsteeg, EJ

AU - Drost, G

AU - Quinlivan, R

AU - Snoeck, M

AU - Norwood, F

AU - Radunbvic, A

AU - Straub, V

AU - Roberts, M

AU - Vrancken, AFJE

AU - van der Pol, WL

AU - Coo, IFM

AU - Manzur, AY

AU - Yau, S

AU - Abbs, S

AU - King, A

AU - Lammens, M

AU - Hopkins, PM

AU - Mohammed, S

AU - Treves, S

AU - Muntoni, F

AU - Wraige, E

AU - Davis, MR

AU - van Engelen, B

AU - Jungbluth, H

PY - 2013

Y1 - 2013

N2 - Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of neuromuscular disease, ranging from various congenital myopathies to the malignant hyperthermia (MH) susceptibility trait without associated weakness. We sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia, frequent presentations in the neuromuscular clinic that often remain unexplained despite extensive investigations. We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys I 393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with M H. Index cases presented from 3 to 45 years with rhabdomyolysis, with or without exertional myalgia (n

AB - Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of neuromuscular disease, ranging from various congenital myopathies to the malignant hyperthermia (MH) susceptibility trait without associated weakness. We sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia, frequent presentations in the neuromuscular clinic that often remain unexplained despite extensive investigations. We identified 9 heterozygous RYR1 mutations/variants in 14 families, 5 of them (p.Lys I 393Arg; p.Gly2434Arg; p.Thr4288_Ala4290dup; p.Ala4295Val; and p.Arg4737Gln) previously associated with M H. Index cases presented from 3 to 45 years with rhabdomyolysis, with or without exertional myalgia (n

U2 - 10.1016/j.nmd.2013.03.008

DO - 10.1016/j.nmd.2013.03.008

M3 - Article

SN - 0960-8966

VL - 23

SP - 540

EP - 548

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 7

ER -