An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
channelopathies
clinical and genetic variability
clinical correlations
functional analyses
myotonia
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2019
2019
Historique:
received:
24
10
2019
accepted:
23
12
2019
entrez:
4
2
2020
pubmed:
6
2
2020
medline:
6
2
2020
Statut:
epublish
Résumé
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in the generation and control of the skeletal muscle action potential. Their altered function causes hyperexcitability of the muscle membrane, thereby triggering myotonia, the main sign in NDM. Mutations in the genes encoding voltage-gated Cl
Identifiants
pubmed: 32010054
doi: 10.3389/fneur.2019.01404
pmc: PMC6978732
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
1404Informations de copyright
Copyright © 2020 Morales and Pusch.
Références
Elife. 2018 May 29;7:
pubmed: 29809153
J Hum Genet. 2013 Sep;58(9):581-7
pubmed: 23739125
Muscle Nerve. 2005 Jul;32(1):19-34
pubmed: 15786415
Neuron. 2003 Apr 10;38(1):47-59
pubmed: 12691663
Neuromuscul Disord. 2009 May;19(5):330-4
pubmed: 18337100
J Biomed Biotechnol. 2011;2011:685328
pubmed: 22187529
EMBO J. 1994 Feb 15;13(4):737-43
pubmed: 8112288
Nature. 1991 Nov 28;354(6351):301-4
pubmed: 1659664
Neurol Sci. 2005 Oct;26(4):194-202
pubmed: 16193245
Hum Mutat. 2016 Jan;37(1):74-83
pubmed: 26510092
Nature. 1996 Sep 26;383(6598):337-40
pubmed: 8848046
J Genet. 2019 Sep;98:null
pubmed: 31544778
J Gen Physiol. 2003 Feb;121(2):149-61
pubmed: 12566541
J Physiol. 1993 Oct;470:13-22
pubmed: 8308722
Muscle Nerve. 1987 May;10(4):363-74
pubmed: 3587272
Neurogenetics. 1998 Mar;1(3):185-8
pubmed: 10737121
Neurology. 2010 Aug 17;75(7):641-5
pubmed: 20713951
Eur J Hum Genet. 2001 Dec;9(12):903-9
pubmed: 11840191
Curr Opin Pharmacol. 2017 Jun;34:70-75
pubmed: 28992608
J Gen Physiol. 1999 Mar;113(3):457-68
pubmed: 10051520
Neuromuscul Disord. 2013 Jun;23(6):489-502
pubmed: 23623567
J Neurol. 2002 Nov;249(11):1493-502
pubmed: 12420087
Neurology. 2012 Nov 27;79(22):2194-200
pubmed: 23152584
Lancet. 2002 Feb 23;359(9307):687-95
pubmed: 11879882
Nature. 1991 Nov 28;354(6351):304-8
pubmed: 1659665
Stem Cells Int. 2018 Apr 11;2018:6241681
pubmed: 29760730
Proc Natl Acad Sci U S A. 1997 Mar 18;94(6):2729-34
pubmed: 9122265
Neurogenetics. 2017 Dec;18(4):219-225
pubmed: 28993909
Am J Hum Genet. 1995 Dec;57(6):1325-34
pubmed: 8533761
Pflugers Arch. 2010 Jul;460(2):239-48
pubmed: 20237798
Neurology. 1996 Oct;47(4):963-8
pubmed: 8857727
Nat Genet. 1993 Apr;3(4):305-10
pubmed: 7981750
J Neurol. 2013 Oct;260(10):2606-13
pubmed: 23884711
Brain. 2013 Jul;136(Pt 7):2189-200
pubmed: 23771340
J Physiol. 1976 Jun;258(1):125-43
pubmed: 940049
J Clin Neurol. 2009 Dec;5(4):186-91
pubmed: 20076800
Compr Physiol. 2012 Apr;2(2):997-1044
pubmed: 23798294
J Gen Physiol. 2011 Mar;137(3):327-9; author reply 331-3
pubmed: 21357735
Muscle Nerve. 2003 Apr;27(4):449-55
pubmed: 12661046
Int J Pediatr Otorhinolaryngol. 2019 Oct;125:199-200
pubmed: 31382107
J Biol Chem. 1994 Nov 4;269(44):27635-9
pubmed: 7961681
Ann Neurol. 2004 Nov;56(5):650-61
pubmed: 15389891
Brain. 1995 Apr;118 ( Pt 2):547-63
pubmed: 7735894
Genetika. 2012 Sep;48(9):1113-23
pubmed: 23113340
J Neurol Sci. 2012 Jul 15;318(1-2):65-71
pubmed: 22521272
J Neurol. 1999 Sep;246(9):825-9
pubmed: 10525982
Hum Mutat. 1999 Nov;14(5):447
pubmed: 10533075
Hum Mol Genet. 1997 May;6(5):805-11
pubmed: 9158157
Ann Neurol. 1978 Oct;4(4):357-65
pubmed: 727740
J Med Genet. 1991 Sep;28(9):583-6
pubmed: 1683408
Handb Clin Neurol. 2007;86:77-106
pubmed: 18808996
Handb Exp Pharmacol. 2018;246:309-330
pubmed: 28939973
J Neurol. 1977 Aug 18;216(1):9-20
pubmed: 72799
J Clin Invest. 2005 Aug;115(8):2000-9
pubmed: 16075040
Am J Hum Genet. 1991 Oct;49(4):851-4
pubmed: 1654742
J Gen Physiol. 2010 Dec;136(6):593-6
pubmed: 21078870
Neurotherapeutics. 2007 Apr;4(2):216-24
pubmed: 17395131
Protein Cell. 2017 Jun;8(6):401-438
pubmed: 28150151
Neurol India. 2008 Jul-Sep;56(3):298-304
pubmed: 18974556
Curr Opin Neurol. 2014 Oct;27(5):583-90
pubmed: 25188014
Muscle Nerve. 1987 Sep;10(7):603-15
pubmed: 3309651
Neuromuscul Disord. 2014 Nov;24(11):953-9
pubmed: 25088311
Muscle Nerve. 2003 Dec;28(6):722-32
pubmed: 14639587
Neurology. 2013 Apr 16;80(16):1472-5
pubmed: 23516313
J Gen Physiol. 2011 Jan;137(1):21-41
pubmed: 21149546
Am J Med Genet A. 2008 Feb 1;146A(3):380-3
pubmed: 18203179
Compr Physiol. 2012 Jul;2(3):1701-44
pubmed: 23723021
Neuron. 1994 Feb;12(2):281-94
pubmed: 8110459
Neurology. 1994 Aug;44(8):1500-3
pubmed: 8058156
Exp Neurol. 2013 Oct;248:530-40
pubmed: 23933576
Eur J Hum Genet. 2004 Sep;12(9):738-43
pubmed: 15162127
Nature. 1996 Sep 26;383(6598):340-3
pubmed: 8848047
Muscle Nerve. 1987 Sep;10(7):633-41
pubmed: 3657849
Nat Clin Pract Neurol. 2006 May;2(5):252-63
pubmed: 16932562
Pediatrics. 2013 Sep;132(3):e784-7
pubmed: 23958773
Neurology. 1999 Jul 22;53(2):297-302
pubmed: 10430417
Physiol Rev. 2018 Jul 1;98(3):1493-1590
pubmed: 29845874
Hum Mol Genet. 1994 Jun;3(6):941-6
pubmed: 7951242
Rev Neurol. 2004 Apr 1-15;38(7):668-74
pubmed: 15098190
J Clin Neurophysiol. 2011 Feb;28(1):39-44
pubmed: 21221019
Biochim Biophys Acta. 2009 Mar;1792(3):173-89
pubmed: 19708126
J Physiol. 1971 Dec;219(2):367-83
pubmed: 5316641
Pediatrics. 2014 Nov;134(5):e1447-50
pubmed: 25311598
Front Cell Neurosci. 2015 Apr 27;9:156
pubmed: 25964741
Arch Neurol. 1975 Mar;32(3):175-80
pubmed: 1119960
Annu Rev Neurosci. 2006;29:387-415
pubmed: 16776591
Neurology. 1998 Apr;50(4):1176-9
pubmed: 9566422
Neuromuscul Disord. 2019 Nov;29(11):907-909
pubmed: 31732390
Sci Rep. 2019 Nov 26;9(1):17560
pubmed: 31772215
Sci Rep. 2015 Oct 27;5:15382
pubmed: 26502825
Science. 1992 Aug 7;257(5071):797-800
pubmed: 1379744
Hum Mutat. 2011 Jul;32(7):773-82
pubmed: 21412952
Neuron. 1995 Dec;15(6):1455-63
pubmed: 8845168
Physiol Rev. 1987 Apr;67(2):618-724
pubmed: 2436244
Curr Neurol Neurosci Rep. 2002 Jan;2(1):61-9
pubmed: 11898585
Muscle Nerve Suppl. 2001;10:S1-50
pubmed: 11603366
J Med Genet. 1993 Nov;30(11):914-7
pubmed: 8301644
Hum Mol Genet. 1998 Oct;7(11):1753-60
pubmed: 9736777
Adv Genet. 2008;63:25-55
pubmed: 19185184
Am J Hum Genet. 1992 Sep;51(3):579-84
pubmed: 1386711
Lancet. 2018 Apr 14;391(10129):1483-1492
pubmed: 29605429
Muscle Nerve. 1998 Oct;21(10):1334-7
pubmed: 9736066
Mol Pharmacol. 2002 Aug;62(2):265-71
pubmed: 12130677
J Biol Chem. 2000 Jan 28;275(4):2999-3005
pubmed: 10644771
Adv Physiol Educ. 2008 Jun;32(2):127-35
pubmed: 18539851
Lancet. 2013 Mar 9;381(9869):845-60
pubmed: 23465426
Brain. 2007 Dec;130(Pt 12):3265-74
pubmed: 17932099
J Gen Physiol. 2016 Apr;147(4):291-308
pubmed: 27022190
J Neurol Neurosurg Psychiatry. 2000 Apr;68(4):504-7
pubmed: 10727489
Curr Opin Neurol. 2009 Oct;22(5):524-31
pubmed: 19571750
Acta Myol. 2017 Sep 01;36(3):125-134
pubmed: 29774303
J Neurol Sci. 2016 Oct 15;369:254-258
pubmed: 27653901
Nature. 2006 Mar 23;440(7083):484-9
pubmed: 16554809
J Cell Biol. 2013 May 13;201(4):499-510
pubmed: 23671309
Hum Mutat. 2003 Jun;21(6):577-81
pubmed: 12754702
Compr Physiol. 2015 Apr;5(2):761-90
pubmed: 25880512
Physiol Rev. 1999 Oct;79(4):1317-72
pubmed: 10508236
Neuromolecular Med. 2015 Sep;17(3):285-96
pubmed: 26007199
Neurotherapeutics. 2007 Apr;4(2):238-51
pubmed: 17395134
Cell. 1991 Nov 29;67(5):1021-7
pubmed: 1659948
J Gen Physiol. 2010 Dec;136(6):597-613
pubmed: 21078869
Epilepsia Open. 2019 Jul 01;4(3):498-503
pubmed: 31440732
PLoS Biol. 2019 Apr 25;17(4):e3000218
pubmed: 31022181
Brain. 2010 Jan;133(Pt 1):9-22
pubmed: 19917643
Neurol Res. 2019 Dec;41(12):1069-1074
pubmed: 31566103
Neurology. 2008 Nov 18;71(21):1740-2
pubmed: 19015492
Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1889-1915
pubmed: 27922499
Neurology. 2012 Jun 12;78(24):1953-8
pubmed: 22649220
J Physiol. 2015 Sep 15;593(18):4181-99
pubmed: 26096614
Hum Mol Genet. 1994 Nov;3(11):2071-2
pubmed: 7874130
Biochem Biophys Res Commun. 2006 Dec 29;351(4):1043-7
pubmed: 17097617
Hum Mutat. 2002 Apr;19(4):423-34
pubmed: 11933197
Muscle Nerve. 1988 May;11(5):433-9
pubmed: 2967431
Neurology. 2000 Feb 22;54(4):937-42
pubmed: 10690989
Nature. 1990 Dec 6;348(6301):510-4
pubmed: 2174129
Mol Membr Biol. 2002 Oct-Dec;19(4):285-92
pubmed: 12512775
Neurology. 1996 Oct;47(4):993-8
pubmed: 8857733
Muscle Nerve. 1988 Jun;11(6):576-81
pubmed: 2455224