메뉴 건너뛰기




Volumn 12, Issue 1, 2012, Pages 62-69

Novel insights into the pathomechanisms of skeletal muscle channelopathies

Author keywords

Andersen Tawil; Bistability; Channel; Channelopathy; Chloride; Electrophysiology; Hyperkalemic; Hypokalemic; Muscle; Myotonia; Periodic paralysis; Potassium; Skeletal; Sodium

Indexed keywords

CALCIUM CHANNEL L TYPE; CHLORIDE CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; POTASSIUM; SODIUM CHANNEL NAV1.4;

EID: 84857628860     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-011-0238-3     Document Type: Review
Times cited : (50)

References (50)
  • 1
    • 0003816305 scopus 로고
    • Goldstein DA, Hellam DC: The after-Potential That Follows Trains of Impulses in Frog Muscle Fibers
    • 14155436 10.1085/jgp.47.5.929
    • WH Freygang Jr 1964 Goldstein DA, Hellam DC: The after-Potential That Follows Trains of Impulses in Frog Muscle Fibers J Gen Physiol 47 929 952 14155436 10.1085/jgp.47.5.929
    • (1964) J Gen Physiol , vol.47 , pp. 929-952
    • Freygang Jr., W.H.1
  • 2
    • 0016166945 scopus 로고
    • On the repetitive discharge in myotonic muscle fibres
    • 4420758 1:STN:280:DyaE2M%2FisFGjsw%3D%3D
    • RH Adrian SH Bryant 1974 On the repetitive discharge in myotonic muscle fibres J Physiol 240 2 505 515 4420758 1:STN:280:DyaE2M%2FisFGjsw%3D%3D
    • (1974) J Physiol , vol.240 , Issue.2 , pp. 505-515
    • Adrian, R.H.1    Bryant, S.H.2
  • 3
    • 77955568196 scopus 로고    scopus 로고
    • Sodium channelopathies of skeletal muscle result from gain or loss of function
    • 20237798 10.1007/s00424-010-0814-4 1:CAS:528:DC%2BC3cXntlGns78%3D
    • K Jurkat-Rott B Holzherr M Fauler F Lehmann-Horn 2010 Sodium channelopathies of skeletal muscle result from gain or loss of function Pflugers Arch 460 2 239 248 20237798 10.1007/s00424-010-0814-4 1:CAS:528: DC%2BC3cXntlGns78%3D
    • (2010) Pflugers Arch , vol.460 , Issue.2 , pp. 239-248
    • Jurkat-Rott, K.1    Holzherr, B.2    Fauler, M.3    Lehmann-Horn, F.4
  • 4
    • 79960329469 scopus 로고    scopus 로고
    • Na, K-pump stimulation improves contractility in isolated muscles of mice with hyperkalaemic periodic paralysis
    • 21708955 10.1085/jgp.201010586 1:CAS:528:DC%2BC3MXpslGht7s%3D
    • T Clausen OB Nielsen JD Clausen, et al. 2011 Na, K-pump stimulation improves contractility in isolated muscles of mice with hyperkalaemic periodic paralysis J Gen Physiol 138 1 117 130 21708955 10.1085/jgp.201010586 1:CAS:528:DC%2BC3MXpslGht7s%3D
    • (2011) J Gen Physiol , vol.138 , Issue.1 , pp. 117-130
    • Clausen, T.1    Nielsen, O.B.2    Clausen, J.D.3
  • 5
    • 77956393231 scopus 로고    scopus 로고
    • Skeletal muscle channelopathies: Nondystrophic myotonias and periodic paralysis
    • 20634695 10.1097/WCO.0b013e32833cc97e 1:CAS:528:DC%2BC3cXhtV2gsbrE
    • DL Raja Rayan MG Hanna 2010 Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis Curr Opin Neurol 23 5 466 476 20634695 10.1097/WCO.0b013e32833cc97e 1:CAS:528:DC%2BC3cXhtV2gsbrE
    • (2010) Curr Opin Neurol , vol.23 , Issue.5 , pp. 466-476
    • Raja Rayan, D.L.1    Hanna, M.G.2
  • 6
    • 62649111494 scopus 로고    scopus 로고
    • K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks
    • v1.1, muscle fibers from patients with HypoPP 1 exhibit an inward leak compatible with gating pore current. By recording from many muscle cells a bimodal distribution of resting potential was demonstrated
    • v1.1, muscle fibers from patients with HypoPP 1 exhibit an inward leak compatible with gating pore current. By recording from many muscle cells a bimodal distribution of resting potential was demonstrated
    • (2009) Proc Natl Acad Sci U S A , vol.106 , Issue.10 , pp. 4036-4041
    • Jurkat-Rott, K.1    Weber, M.A.2    Fauler, M.3
  • 7
    • 67649397890 scopus 로고    scopus 로고
    • Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
    • 19118277 10.1212/01.wnl.0000342387.65477.46 1:STN:280: DC%2BD1MzhvFamsw%3D%3D This article provides strong genetic support for the idea that the gating pore current is the critical abnormality in HypoPP
    • E Matthews R Labrum MG Sweeney, et al. 2009 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis Neurology 72 18 1544 1547 19118277 10.1212/01.wnl.0000342387.65477.46 1:STN:280: DC%2BD1MzhvFamsw%3D%3D This article provides strong genetic support for the idea that the gating pore current is the critical abnormality in HypoPP
    • (2009) Neurology , vol.72 , Issue.18 , pp. 1544-1547
    • Matthews, E.1    Labrum, R.2    Sweeney, M.G.3
  • 8
    • 77955564204 scopus 로고    scopus 로고
    • Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels
    • 20213496 10.1007/s00424-010-0800-x 1:CAS:528:DC%2BC3cXntlGnsrk%3D
    • J Striessnig HJ Bolz A Koschak 2010 Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels Pflugers Arch 460 2 361 374 20213496 10.1007/s00424-010-0800-x 1:CAS:528:DC%2BC3cXntlGnsrk%3D
    • (2010) Pflugers Arch , vol.460 , Issue.2 , pp. 361-374
    • Striessnig, J.1    Bolz, H.J.2    Koschak, A.3
  • 9
    • 0036660667 scopus 로고    scopus 로고
    • Effects of chloride transport on bistable behaviour of the membrane potential in mouse skeletal muscle
    • DOI 10.1113/jphysiol.2001.013298
    • RJ Geukes Foppen HG van Mil JS van Heukelom 2002 Effects of chloride transport on bistable behaviour of the membrane potential in mouse skeletal muscle J Physiol 542 Pt 1 181 191 12096060 10.1113/jphysiol.2001.013298 1:CAS:528:DC%2BD38XmtValsrY%3D (Pubitemid 35190281)
    • (2002) Journal of Physiology , vol.542 , Issue.1 , pp. 181-191
    • Foppen, R.J.G.1    Van Mil, H.G.J.2    Van Heukelom, J.S.3
  • 10
    • 39749195786 scopus 로고    scopus 로고
    • +: Insights into resting potential abnormalities in hypokalemic paralysis
    • DOI 10.1002/mus.20928
    • AF Struyk SC Cannon 2008 Paradoxical depolarization of BA2 + - treated muscle exposed to low extracellular K+: insights into resting potential abnormalities in hypokalemic paralysis Muscle Nerve 37 3 326 337 18041053 10.1002/mus.20928 1:CAS:528:DC%2BD1cXjs1eqtb4%3D (Pubitemid 351304792)
    • (2008) Muscle and Nerve , vol.37 , Issue.3 , pp. 326-337
    • Struyk, A.F.1    Cannon, S.C.2
  • 11
    • 77955856284 scopus 로고    scopus 로고
    • Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: A new treatable disorder
    • 20713951 10.1212/WNL.0b013e3181ed9e96 1:CAS:528:DC%2BC3cXhtVektbjO
    • L Lion-Francois C Mignot S Vicart, et al. 2010 Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder Neurology 75 7 641 645 20713951 10.1212/WNL.0b013e3181ed9e96 1:CAS:528:DC%2BC3cXhtVektbjO
    • (2010) Neurology , vol.75 , Issue.7 , pp. 641-645
    • Lion-Francois, L.1    Mignot, C.2    Vicart, S.3
  • 12
    • 78651266018 scopus 로고    scopus 로고
    • Stridor as a neonatal presentation of skeletal muscle sodium channelopathy
    • 21220685 10.1001/archneurol.2010.347
    • E Matthews AY Manzur R Sud, et al. 2011 Stridor as a neonatal presentation of skeletal muscle sodium channelopathy Arch Neurol 68 127 129 21220685 10.1001/archneurol.2010.347
    • (2011) Arch Neurol , vol.68 , pp. 127-129
    • Matthews, E.1    Manzur, A.Y.2    Sud, R.3
  • 13
    • 79959735974 scopus 로고    scopus 로고
    • Mechanisms underlying a life-threatening skeletal muscle Na∈+∈channel disorder
    • in press
    • Simkin D, Lena I, Landrieu P, et al.: Mechanisms underlying a life-threatening skeletal muscle Na∈+∈channel disorder. J Physiol 2011, in press.
    • (2011) J Physiol
    • Simkin, D.1    Lena, I.2    Landrieu, P.3
  • 14
    • 79959728816 scopus 로고    scopus 로고
    • A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia
    • Kubota T, Roca X, Kimura T, et al.: A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia. Hum Mutat 2011.
    • (2011) Hum Mutat
    • Kubota, T.1    Roca, X.2    Kimura, T.3
  • 15
    • 74949144432 scopus 로고    scopus 로고
    • Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents
    • 20038812 10.1172/JCI40801 1:CAS:528:DC%2BC3cXislWltw%3D%3D This article suggests an interesting new mechanism through which sodium channel myotonia might arise, although the hypothesis remains to be tested empirically in skeletal muscle tissue
    • BW Jarecki AD Piekarz JO Jackson 2nd TR Cummins 2010 Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents J Clin Invest 120 1 369 378 20038812 10.1172/JCI40801 1:CAS:528:DC%2BC3cXislWltw%3D%3D This article suggests an interesting new mechanism through which sodium channel myotonia might arise, although the hypothesis remains to be tested empirically in skeletal muscle tissue
    • (2010) J Clin Invest , vol.120 , Issue.1 , pp. 369-378
    • Jarecki, B.W.1    Piekarz, A.D.2    Jackson II, J.O.3    Cummins, T.R.4
  • 16
    • 74949143847 scopus 로고    scopus 로고
    • Sodium channels gone wild: Resurgent current from neuronal and muscle channelopathies
    • 20038809 10.1172/JCI41340 1:CAS:528:DC%2BC3cXislWnsg%3D%3D
    • SC Cannon BP Bean 2010 Sodium channels gone wild: resurgent current from neuronal and muscle channelopathies J Clin Invest 120 1 80 83 20038809 10.1172/JCI41340 1:CAS:528:DC%2BC3cXislWnsg%3D%3D
    • (2010) J Clin Invest , vol.120 , Issue.1 , pp. 80-83
    • Cannon, S.C.1    Bean, B.P.2
  • 17
    • 77950221262 scopus 로고    scopus 로고
    • Homozygosity for dominant mutations increases severity of muscle channelopathies
    • 19882638 10.1002/mus.21520 1:CAS:528:DC%2BC3cXlsFSlsLc%3D
    • M Arzel-Hezode D Sternberg N Tabti, et al. 2010 Homozygosity for dominant mutations increases severity of muscle channelopathies Muscle Nerve 41 4 470 477 19882638 10.1002/mus.21520 1:CAS:528:DC%2BC3cXlsFSlsLc%3D
    • (2010) Muscle Nerve , vol.41 , Issue.4 , pp. 470-477
    • Arzel-Hezode, M.1    Sternberg, D.2    Tabti, N.3
  • 18
    • 0031026470 scopus 로고    scopus 로고
    • Dominance and homozygosity
    • DOI 10.1002/(SICI)1096-8628(19970211)68:4<412::AID-AJMG8>3.0.CO;2-N
    • J Zlotogora 1997 Dominance and homozygosity Am J Med Genet 68 4 412 416 9021013 10.1002/(SICI)1096-8628(19970211)68:4<412::AID-AJMG8>3.0.CO;2-N 1:STN:280:DyaK2s7ntlWntw%3D%3D (Pubitemid 27073708)
    • (1997) American Journal of Medical Genetics , vol.68 , Issue.4 , pp. 412-416
    • Zlotogora, J.1
  • 19
    • 0028014337 scopus 로고
    • The molecular basis of genetic dominance
    • AO Wilkie 1994 The molecular basis of genetic dominance J Med Genet 31 2 89 98 8182727 10.1136/jmg.31.2.89 1:CAS:528:DyaK2cXmslejtrs%3D (Pubitemid 24056438)
    • (1994) Journal of Medical Genetics , vol.31 , Issue.2 , pp. 89-98
    • Wilkie, A.O.M.1
  • 20
    • 79955803762 scopus 로고    scopus 로고
    • Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia
    • 21490317 10.1212/WNL.0b013e318219fb57 1:CAS:528:DC%2BC3MXlslymtbY%3D Not all voltage sensor mutations cause HypoPP. The finding that a voltage sensor mutation not associated with HypoPP does not produce a gating pore current lends support to the idea that gating pore current is critical to the pathogenesis of HypoPP.
    • DG Francis V Rybalchenko A Struyk SC Cannon 2011 Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia Neurology 76 1635 1641 21490317 10.1212/WNL.0b013e318219fb57 1:CAS:528:DC%2BC3MXlslymtbY%3D Not all voltage sensor mutations cause HypoPP. The finding that a voltage sensor mutation not associated with HypoPP does not produce a gating pore current lends support to the idea that gating pore current is critical to the pathogenesis of HypoPP.
    • (2011) Neurology , vol.76 , pp. 1635-1641
    • Francis, D.G.1    Rybalchenko, V.2    Struyk, A.3    Cannon, S.C.4
  • 21
    • 74949094025 scopus 로고    scopus 로고
    • Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
    • 20083806 10.1212/WNL.0b013e3181c77589 author reply 169-70
    • RL Ruff 2010 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis Neurology 74 3 269 20083806 10.1212/WNL. 0b013e3181c77589 author reply 169-70
    • (2010) Neurology , vol.74 , Issue.3 , pp. 269
    • Ruff, R.L.1
  • 22
    • 77956035810 scopus 로고    scopus 로고
    • INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis
    • 20589886 10.1002/mus.21693 1:CAS:528:DC%2BC3cXht1SnurzP This article makes the important point that HypoPP 1 muscle has more biophysical abnormalities than the gating pore current, and that these may contribute to the phenotype
    • A Puwanant RL Ruff 2010 INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis Muscle Nerve 42 3 315 327 20589886 10.1002/mus.21693 1:CAS:528:DC%2BC3cXht1SnurzP This article makes the important point that HypoPP 1 muscle has more biophysical abnormalities than the gating pore current, and that these may contribute to the phenotype
    • (2010) Muscle Nerve , vol.42 , Issue.3 , pp. 315-327
    • Puwanant, A.1    Ruff, R.L.2
  • 23
    • 77955579010 scopus 로고    scopus 로고
    • Kir 2.1 channelopathies: The Andersen-Tawil syndrome
    • 20306271 10.1007/s00424-010-0820-6 1:CAS:528:DC%2BC3cXntlGnsr4%3D
    • M Tristani-Firouzi SP Etheridge 2010 Kir 2.1 channelopathies: the Andersen-Tawil syndrome Pflugers Arch 460 2 289 294 20306271 10.1007/s00424-010-0820-6 1:CAS:528:DC%2BC3cXntlGnsr4%3D
    • (2010) Pflugers Arch , vol.460 , Issue.2 , pp. 289-294
    • Tristani-Firouzi, M.1    Etheridge, S.P.2
  • 24
    • 77950231102 scopus 로고    scopus 로고
    • A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome
    • 20111058 10.1038/jhg.2010.2
    • HF Chan ML Chen JJ Su, et al. 2010 A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome J Hum Genet 55 3 186 188 20111058 10.1038/jhg.2010.2
    • (2010) J Hum Genet , vol.55 , Issue.3 , pp. 186-188
    • Chan, H.F.1    Chen, M.L.2    Su, J.J.3
  • 25
    • 77950951326 scopus 로고    scopus 로고
    • Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: A novel mutation in the pore selectivity filter residue
    • 20382953 10.1177/0883073809357937
    • BC Lim GB Kim EJ Bae, et al. 2010 Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue J Child Neurol 25 4 490 493 20382953 10.1177/0883073809357937
    • (2010) J Child Neurol , vol.25 , Issue.4 , pp. 490-493
    • Lim, B.C.1    Kim, G.B.2    Bae, E.J.3
  • 26
    • 79952796280 scopus 로고    scopus 로고
    • Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry
    • 21148745 10.1161/CIRCGENETICS.110.957696 1:CAS:528:DC%2BC3MXjtVSrtLg%3D
    • H Barajas-Martinez D Hu G Ontiveros, et al. 2011 Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry Circ Cardiovasc Genet 4 1 51 57 21148745 10.1161/CIRCGENETICS.110.957696 1:CAS:528:DC%2BC3MXjtVSrtLg%3D
    • (2011) Circ Cardiovasc Genet , vol.4 , Issue.1 , pp. 51-57
    • Barajas-Martinez, H.1    Hu, D.2    Ontiveros, G.3
  • 27
    • 70449488899 scopus 로고    scopus 로고
    • Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome
    • 19931173 10.1016/j.pediatrneurol.2009.07.010
    • JB Kim KW Chung 2009 Novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome Pediatr Neurol 41 6 464 466 19931173 10.1016/j.pediatrneurol.2009.07.010
    • (2009) Pediatr Neurol , vol.41 , Issue.6 , pp. 464-466
    • Kim, J.B.1    Chung, K.W.2
  • 28
    • 80052751108 scopus 로고    scopus 로고
    • A Novel KCNJ2 Nonsense Mutation, S369X, Impedes Trafficking and Causes a Limited Form of Andersen-Tawil Syndrome
    • 21493816 10.1161/CIRCGENETICS.110.958157 1:CAS:528:DC%2BC3MXps1Ogu7o%3D
    • T Doi T Makiyama T Morimoto, et al. 2011 A Novel KCNJ2 Nonsense Mutation, S369X, Impedes Trafficking and Causes a Limited Form of Andersen-Tawil Syndrome Circ Cardiovasc Genet 4 253 260 21493816 10.1161/CIRCGENETICS.110.958157 1:CAS:528:DC%2BC3MXps1Ogu7o%3D
    • (2011) Circ Cardiovasc Genet , vol.4 , pp. 253-260
    • Doi, T.1    Makiyama, T.2    Morimoto, T.3
  • 29
    • 73349132366 scopus 로고    scopus 로고
    • Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis
    • 20074522 10.1016/j.cell.2009.12.024 1:CAS:528:DC%2BC3cXkvVWiurs%3D
    • DP Ryan MR da Silva TW Soong, et al. 2010 Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis Cell 140 1 88 98 20074522 10.1016/j.cell.2009.12.024 1:CAS:528:DC%2BC3cXkvVWiurs%3D
    • (2010) Cell , vol.140 , Issue.1 , pp. 88-98
    • Ryan, D.P.1    Da Silva, M.R.2    Soong, T.W.3
  • 30
    • 79953190402 scopus 로고    scopus 로고
    • Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels
    • 21209095 10.1074/jbc.M110.170597 1:CAS:528:DC%2BC3MXjtFOit7w%3D
    • L Dassau LR Conti CM Radeke, et al. 2011 Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels J Biol Chem 286 9526 9541 21209095 10.1074/jbc.M110.170597 1:CAS:528:DC%2BC3MXjtFOit7w%3D
    • (2011) J Biol Chem , vol.286 , pp. 9526-9541
    • Dassau, L.1    Conti, L.R.2    Radeke, C.M.3
  • 31
    • 79960997715 scopus 로고    scopus 로고
    • Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis
    • in press
    • Cheng CJ, Lin SH, Lo YF, et al.: Identification and Functional Characterization of Kir2.6 Mutations Associated with Non-familial Hypokalemic Periodic Paralysis. JBC 2011, in press.
    • (2011) JBC
    • Cheng, C.J.1    Lin, S.H.2    Lo, Y.F.3
  • 32
    • 0028152604 scopus 로고
    • Role of innervation, excitability and myogenic factors in the expression of the muscular chloride channel ClC-1
    • 7961681 1:CAS:528:DyaK2cXmt1Oqsbo%3D
    • R Klocke K Steinmeyer T Jentsch H Jockusch 1994 Role of innervation, excitability and myogenic factors in the expression of the muscular chloride channel ClC-1 J Biol Chem 269 44 27635 27639 7961681 1:CAS:528: DyaK2cXmt1Oqsbo%3D
    • (1994) J Biol Chem , vol.269 , Issue.44 , pp. 27635-27639
    • Klocke, R.1    Steinmeyer, K.2    Jentsch, T.3    Jockusch, H.4
  • 33
    • 79952050678 scopus 로고    scopus 로고
    • Fatigue-inducing stimulation resolves myotonia in a drug-induced model
    • 21356096 10.1186/1472-6793-11-5
    • E van Lunteren SE Spiegler M Moyer 2011 Fatigue-inducing stimulation resolves myotonia in a drug-induced model BMC Physiol 11 5 21356096 10.1186/1472-6793-11-5
    • (2011) BMC Physiol , vol.11 , pp. 5
    • Van Lunteren, E.1    Spiegler, S.E.2    Moyer, M.3
  • 34
    • 78650887200 scopus 로고    scopus 로고
    • Chloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers
    • 21149546 10.1085/jgp.201010496
    • M DiFranco A Herrera JL Vergara 2010 Chloride currents from the transverse tubular system in adult mammalian skeletal muscle fibers J Gen Physiol 137 21 41 21149546 10.1085/jgp.201010496
    • (2010) J Gen Physiol , vol.137 , pp. 21-41
    • Difranco, M.1    Herrera, A.2    Vergara, J.L.3
  • 35
    • 78650063521 scopus 로고    scopus 로고
    • Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle
    • 21078869 10.1085/jgp.201010526 1:CAS:528:DC%2BC3MXmtFal
    • JD Lueck AE Rossi CA Thornton, et al. 2010 Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle J Gen Physiol 136 6 597 613 21078869 10.1085/jgp.201010526 1:CAS:528:DC%2BC3MXmtFal
    • (2010) J Gen Physiol , vol.136 , Issue.6 , pp. 597-613
    • Lueck, J.D.1    Rossi, A.E.2    Thornton, C.A.3
  • 36
    • 78650923673 scopus 로고    scopus 로고
    • Chloride channels take center stage in a muscular drama
    • 21149545 10.1085/jgp.201010574
    • C Fahlke 2010 Chloride channels take center stage in a muscular drama J Gen Physiol 137 1 17 19 21149545 10.1085/jgp.201010574
    • (2010) J Gen Physiol , vol.137 , Issue.1 , pp. 17-19
    • Fahlke, C.1
  • 37
    • 78650071705 scopus 로고    scopus 로고
    • Relaxing messages from the sarcolemma
    • 21078870 10.1085/jgp.201010567 1:CAS:528:DC%2BC3MXmtFam
    • G Zifarelli M Pusch 2010 Relaxing messages from the sarcolemma J Gen Physiol 136 6 593 596 21078870 10.1085/jgp.201010567 1:CAS:528:DC%2BC3MXmtFam
    • (2010) J Gen Physiol , vol.136 , Issue.6 , pp. 593-596
    • Zifarelli, G.1    Pusch, M.2
  • 38
    • 27844464496 scopus 로고    scopus 로고
    • Propagation in the transverse tubular system and voltage dependence of calcium release in normal and mdx mouse muscle fibres
    • DOI 10.1113/jphysiol.2005.089318
    • CE Woods D Novo M DiFranco, et al. 2005 Propagation in the transverse tubular system and voltage dependence of calcium release in normal and mdx mouse muscle fibres J Physiol 568 Pt 3 867 880 16123111 10.1113/jphysiol.2005.089318 1:CAS:528:DC%2BD2MXht1Onsb7J (Pubitemid 41646027)
    • (2005) Journal of Physiology , vol.568 , Issue.3 , pp. 867-880
    • Woods, C.E.1    Novo, D.2    DiFranco, M.3    Capote, J.4    Vergara, J.L.5
  • 39
    • 33646501541 scopus 로고    scopus 로고
    • Optical imaging and functional characterization of the transverse tubular system of mammalian muscle fibers using the potentiometric indicator di-8-ANEPPS
    • 16645743 10.1007/s00232-005-0825-9 1:CAS:528:DC%2BD28XjvFGhtL0%3D
    • M DiFranco J Capote JL Vergara 2005 Optical imaging and functional characterization of the transverse tubular system of mammalian muscle fibers using the potentiometric indicator di-8-ANEPPS J Membr Biol 208 2 141 153 16645743 10.1007/s00232-005-0825-9 1:CAS:528:DC%2BD28XjvFGhtL0%3D
    • (2005) J Membr Biol , vol.208 , Issue.2 , pp. 141-153
    • Difranco, M.1    Capote, J.2    Vergara, J.L.3
  • 40
    • 21444456472 scopus 로고    scopus 로고
    • Phenotypic variability in myotonia congenita
    • DOI 10.1002/mus.20295
    • E Colding-Jorgensen 2005 Phenotypic variability in myotonia congenita Muscle Nerve 32 19 34 15786415 10.1002/mus.20295 1:CAS:528:DC%2BD2MXmsV2lsLY%3D (Pubitemid 40917886)
    • (2005) Muscle and Nerve , vol.32 , Issue.1 , pp. 19-34
    • Colding-Jorgensen, E.1
  • 41
    • 0037327607 scopus 로고    scopus 로고
    • Involvement of helices at the dimer interface in ClC-1 common gating
    • DOI 10.1085/jgp.20028741
    • M Duffield G Rychkov A Bretag M Roberts 2003 Involvement of helices at the dimer interface in ClC-1 common gating J Gen Physiol 121 2 149 161 12566541 10.1085/jgp.20028741 1:CAS:528:DC%2BD3sXhs1yntL0%3D (Pubitemid 36255343)
    • (2003) Journal of General Physiology , vol.121 , Issue.2 , pp. 149-161
    • Duffield, M.1    Rychkov, G.2    Bretag, A.3    Roberts, M.4
  • 42
    • 33748372269 scopus 로고    scopus 로고
    • Pathomechanisms in channelopathies of skeletal muscle and brain
    • DOI 10.1146/annurev.neuro.29.051605.112815
    • S Cannon 2006 Pathomechanisms in channelopathies of skeletal muscle and brain Annu Rev Neurosci 29 387 415 16776591 10.1146/annurev.neuro.29.051605. 112815 1:CAS:528:DC%2BD28XosVeitrY%3D (Pubitemid 44476851)
    • (2006) Annual Review of Neuroscience , vol.29 , pp. 387-415
    • Cannon, S.C.1
  • 43
    • 79953283287 scopus 로고    scopus 로고
    • A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization
    • 21385601 10.1016/j.neulet.2011.03.002 1:CAS:528:DC%2BC3MXktF2gs7g%3D
    • A Tsujino M Kaibara H Hayashi, et al. 2011 A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization Neurosci Lett 494 2 155 160 21385601 10.1016/j.neulet.2011.03.002 1:CAS:528:DC%2BC3MXktF2gs7g%3D
    • (2011) Neurosci Lett , vol.494 , Issue.2 , pp. 155-160
    • Tsujino, A.1    Kaibara, M.2    Hayashi, H.3
  • 44
    • 77649174011 scopus 로고    scopus 로고
    • Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita
    • 19918890 10.1002/mus.21548
    • VP Muniz AS Senkevics D Zilbersztajn, et al. 2010 Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita Muscle Nerve 41 3 427 428 19918890 10.1002/mus.21548
    • (2010) Muscle Nerve , vol.41 , Issue.3 , pp. 427-428
    • Muniz, V.P.1    Senkevics, A.S.2    Zilbersztajn, D.3
  • 45
    • 80054878098 scopus 로고    scopus 로고
    • Myotonia congenita and myotonic dystrophy in the same family: Coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene
    • in press
    • Sun C, Van Ghelue M, Tranebjaerg L, et al.: Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. Clin Genet 2011, in press.
    • (2011) Clin Genet
    • Sun, C.1    Van Ghelue, M.2    Tranebjaerg, L.3
  • 46
    • 58549088977 scopus 로고    scopus 로고
    • High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
    • 18807109 10.1007/s00415-008-0010-z 1:CAS:528:DC%2BD1MXht1emsrw%3D
    • T Suominen B Schoser O Raheem, et al. 2008 High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany J Neurol 255 11 1731 1736 18807109 10.1007/s00415-008-0010-z 1:CAS:528:DC%2BD1MXht1emsrw%3D
    • (2008) J Neurol , vol.255 , Issue.11 , pp. 1731-1736
    • Suominen, T.1    Schoser, B.2    Raheem, O.3
  • 47
    • 70349640058 scopus 로고    scopus 로고
    • Comparison of regulated passive membrane conductance in action potential-firing fast- and slow-twitch muscle
    • 19786585 10.1085/jgp.200910291 1:CAS:528:DC%2BD1MXhtleiurrN
    • TH Pedersen WA Macdonald FV de Paoli, et al. 2009 Comparison of regulated passive membrane conductance in action potential-firing fast- and slow-twitch muscle J Gen Physiol 134 4 323 337 19786585 10.1085/jgp.200910291 1:CAS:528:DC%2BD1MXhtleiurrN
    • (2009) J Gen Physiol , vol.134 , Issue.4 , pp. 323-337
    • Pedersen, T.H.1    MacDonald, W.A.2    De Paoli, F.V.3
  • 48
    • 70349640057 scopus 로고    scopus 로고
    • Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers
    • 19786584 10.1085/jgp.200910290 1:CAS:528:DC%2BD1MXhtleiurrM
    • TH Pedersen FV de Paoli JA Flatman, et al. 2009 Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers J Gen Physiol 134 4 309 322 19786584 10.1085/jgp.200910290 1:CAS:528:DC%2BD1MXhtleiurrM
    • (2009) J Gen Physiol , vol.134 , Issue.4 , pp. 309-322
    • Pedersen, T.H.1    De Paoli, F.V.2    Flatman, J.A.3
  • 49
    • 84857628246 scopus 로고    scopus 로고
    • Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies
    • in press
    • Tricarico D, Conte Camerino D: Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies. Front Pharmacol 2011, in press.
    • (2011) Front Pharmacol
    • Tricarico, D.1    Conte Camerino, D.2
  • 50
    • 77955038464 scopus 로고    scopus 로고
    • Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations
    • 20660662 10.1085/jgp.201010414 1:CAS:528:DC%2BC3cXhtV2rurjP This article suggests that guanidine-based drugs acting as gating pore blockers could be useful therapies for HypoPP
    • S Sokolov T Scheuer WA Catterall 2010 Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations J Gen Physiol 136 2 225 236 20660662 10.1085/jgp.201010414 1:CAS:528:DC%2BC3cXhtV2rurjP This article suggests that guanidine-based drugs acting as gating pore blockers could be useful therapies for HypoPP
    • (2010) J Gen Physiol , vol.136 , Issue.2 , pp. 225-236
    • Sokolov, S.1    Scheuer, T.2    Catterall, W.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.