Myotonic dystrophy type 2: the 2020 update.
CNBP
DM2
DMPK
PROMM
myotonic dystrophy type 2
proximal myotonic myopathy
Journal
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
ISSN: 2532-1900
Titre abrégé: Acta Myol
Pays: Italy
ID NLM: 9811169
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
09
11
2020
accepted:
09
11
2020
entrez:
18
1
2021
pubmed:
19
1
2021
medline:
21
10
2021
Statut:
epublish
Résumé
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy. Phenotypes of DM1 and DM2 are similar, but there are some important differences, including the presence or absence of congenital form, muscles primarily affected (distal vs proximal), involved muscle fiber types (type 1 vs type 2 fibers), and some associated multisystemic phenotypes. There is currently no cure for the myotonic dystrophies but effective management significantly reduces the morbidity and mortality of patients. For the enormous understanding of the molecular pathogenesis of myotonic dystrophy type 1 and myotonic dystrophy type 2, these diseases are now called "spliceopathies" and are mediated by a primary disorder of RNA rather than proteins. Despite clinical and genetic similarities, myotonic dystrophy type 1 and type 2 are distinct disorders requiring different diagnostic and management strategies. Gene therapy for myotonic dystrophy type 1 and myotonic dystrophy type 2 appears to be very close and the near future is an exciting time for clinicians and patients.
Identifiants
pubmed: 33458578
doi: 10.36185/2532-1900-026
pmc: PMC7783423
doi:
Substances chimiques
CNBP protein, human
0
DMPK protein, human
0
RNA-Binding Proteins
0
Myotonin-Protein Kinase
EC 2.7.11.1
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
222-234Informations de copyright
©2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.
Déclaration de conflit d'intérêts
Conflict of interest The Author declares no conflict of interest
Références
Neuromuscul Disord. 1999 May;9(3):144-9
pubmed: 10382907
Adv Exp Med Biol. 2002;516:27-45
pubmed: 12611434
Int J Cardiol. 2013 Sep 30;168(2):1147-53
pubmed: 23266299
Neurology. 2003 Feb 25;60(4):657-64
pubmed: 12601109
Curr Opin Neurol. 2002 Oct;15(5):545-52
pubmed: 12351998
Development. 2003 Apr;130(7):1367-79
pubmed: 12588852
Neurobiol Dis. 2009 Oct;36(1):181-90
pubmed: 19632331
Ann Neurol. 2003 Dec;54(6):760-8
pubmed: 14681885
Nat Commun. 2018 May 22;9(1):2009
pubmed: 29789616
Hum Mol Genet. 2019 Jul 15;28(14):2330-2338
pubmed: 30997488
Neuromuscul Disord. 1997 Jun;7(4):217-28
pubmed: 9196902
Am J Hum Genet. 2003 Oct;73(4):849-62
pubmed: 14505273
Circ Cardiovasc Imaging. 2016 Jul;9(7):
pubmed: 27363857
Mol Cell Biol. 2018 Jun 28;38(14):
pubmed: 29735719
Proc Natl Acad Sci U S A. 2015 Jun 30;112(26):8041-5
pubmed: 26080402
Brain. 2011 Dec;134(Pt 12):3530-46
pubmed: 22131273
PLoS One. 2010 Feb 18;5(2):e9301
pubmed: 20174632
Trends Cell Biol. 1994 Mar;4(3):86-90
pubmed: 14731598
J Mol Biol. 2007 Apr 20;368(1):8-17
pubmed: 17335846
Neurology. 2018 Feb 13;90(7):e615-e622
pubmed: 29343467
J Neurol. 2010 Aug;257(8):1246-55
pubmed: 20221771
Am J Hum Genet. 2003 Oct;73(4):835-48
pubmed: 12970845
Science. 2001 Aug 3;293(5531):816-7
pubmed: 11486078
Neuromuscul Disord. 1999 Jan;9(1):19-27
pubmed: 10063831
Neurology. 1994 Aug;44(8):1448-52
pubmed: 8058147
Biochim Biophys Acta. 2015 Apr;1852(4):594-606
pubmed: 24882752
FASEB J. 2009 Oct;23(10):3335-46
pubmed: 19528256
J Neurol. 2017 Dec;264(12):2472-2480
pubmed: 29086017
Muscle Nerve. 2010 Sep;42(3):457
pubmed: 20665517
Neurol Sci. 2017 Apr;38(4):535-546
pubmed: 28078562
Eur J Histochem. 2006 Jul-Sep;50(3):177-82
pubmed: 16920640
Neurology. 1999 Sep 22;53(5):1042-50
pubmed: 10496264
Muscle Nerve. 2000 Dec;23(12):1789-99
pubmed: 11102902
Neuromuscul Disord. 2002 Mar;12(3):306-17
pubmed: 11801405
PLoS One. 2017 Sep 15;12(9):e0184987
pubmed: 28915272
Arch Neurol. 1998 Mar;55(3):305-11
pubmed: 9520004
Neurol Clin Pract. 2019 Aug;9(4):343-353
pubmed: 31583190
Dev Biol. 2006 Jul 1;295(1):116-27
pubmed: 16626683
Muscle Nerve. 2016 May;53(5):700-4
pubmed: 26425828
PLoS One. 2012;7(6):e39732
pubmed: 22768114
Neurogenetics. 2008 Feb;9(1):61-3
pubmed: 18057971
Neuromuscul Disord. 1996 May;6(3):143-50
pubmed: 8784800
Neurology. 2004 Dec 28;63(12):2402-4
pubmed: 15623712
Sci Rep. 2016 Dec 01;6:38174
pubmed: 27905532
PLoS Genet. 2011 Mar;7(3):e1002018
pubmed: 21423665
Cell. 1992 Feb 21;68(4):799-808
pubmed: 1310900
Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):260-5
pubmed: 21173221
Neuromuscul Disord. 2015 Apr;25(4):301-7
pubmed: 25660391
Arch Neurol. 1995 Jan;52(1):25-31
pubmed: 7826272
Acta Myol. 2018 Dec 01;37(4):252-256
pubmed: 30944903
Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R162-9
pubmed: 16987879
J Cell Biochem. 2007 Dec 15;102(6):1553-70
pubmed: 17471504
Neurology. 2006 Feb 28;66(4):579-80
pubmed: 16505316
Hum Mutat. 2008 Aug;29(8):E100-2
pubmed: 18484632
Eur J Histochem. 2004 Oct-Dec;48(4):437-42
pubmed: 15718211
Neurology. 2017 Sep 26;89(13):1348-1354
pubmed: 28855409
Eur J Neurol. 2010 Jun 1;17(6):842-5
pubmed: 20100232
J Neurol. 2008 Nov;255(11):1731-6
pubmed: 18807109
Neuromuscul Disord. 2003 Dec;13(10):813-21
pubmed: 14678804
Neurol Sci. 2019 May;40(5):1035-1040
pubmed: 30790082
J Neurol. 2015 Jan;262(1):142-8
pubmed: 25346064
Neuromuscul Disord. 2011 Feb;21(2):81-8
pubmed: 21169019
Int J Mol Sci. 2019 Jul 09;20(13):
pubmed: 31323950
Eur J Histochem. 2009 Sep 23;53(3):151-8
pubmed: 19864209
Arch Neurol. 2004 Dec;61(12):1938-42
pubmed: 15596616
PLoS One. 2019 Mar 22;14(3):e0214254
pubmed: 30901379
Hum Mol Genet. 2006 Jul 1;15(13):2087-97
pubmed: 16717059
Acta Myol. 2017 Mar;36(1):14-18
pubmed: 28690389
Muscle Nerve. 2007 Sep;36(3):294-306
pubmed: 17486579
Curr Neurol Neurosci Rep. 2019 Feb 9;19(2):9
pubmed: 30739220
Ann Neurol. 1994 Mar;35(3):269-72
pubmed: 8122879
Science. 2001 Aug 3;293(5531):864-7
pubmed: 11486088
Sci Rep. 2018 Jul 23;8(1):11058
pubmed: 30038349
Neurology. 2000 Aug 8;55(3):383-8
pubmed: 10932272
J Pain. 2018 Aug;19(8):920-930
pubmed: 29601898
Muscle Nerve. 2012 Jan;45(1):70-4
pubmed: 22190310
J Transl Med. 2010 May 20;8:48
pubmed: 20487562
J Cell Mol Med. 2009 Jan;13(1):2-11
pubmed: 19175696
J Med Case Rep. 2016 Jun 07;10:167
pubmed: 27266866
Biomed Res Int. 2013;2013:958510
pubmed: 23762868
J Neurosci. 2009 Jul 15;29(28):9042-9
pubmed: 19605641
J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):963-7
pubmed: 20798200
Acta Neuropathol. 2010 Apr;119(4):465-79
pubmed: 20066428
Science. 1992 Mar 6;255(5049):1256-8
pubmed: 1546326
Curr Neurol Neurosci Rep. 2002 Sep;2(5):465-70
pubmed: 12169228
Neurology. 2009 Feb 10;72(6):490-7
pubmed: 19020295
Nat Genet. 1998 Jun;19(2):196-8
pubmed: 9620781
Neuromuscul Disord. 2011 Jun;21(6):443-50
pubmed: 21543227
Eur J Hum Genet. 2011 Jul;19(7):776-82
pubmed: 21364698
PLoS One. 2013 Dec 20;8(12):e83777
pubmed: 24376746
Neuron. 2017 Sep 13;95(6):1292-1305.e5
pubmed: 28910618
Neuromuscul Disord. 2005 Jan;15(1):5-16
pubmed: 15639115
Genet Test Mol Biomarkers. 2015 Dec;19(12):703-9
pubmed: 26505324
Science. 1992 Mar 6;255(5049):1253-5
pubmed: 1546325
Arch Neurol. 1999 Mar;56(3):325-30
pubmed: 10190823
Am J Pathol. 2009 Aug;175(2):748-62
pubmed: 19590039
J Neurol Sci. 2002 Jan 15;193(2):89-96
pubmed: 11790388
EBioMedicine. 2016 May;7:205-11
pubmed: 27322473
Neuromuscul Disord. 2004 Apr;14(4):274-83
pubmed: 15019706
Eye (Lond). 2018 Mar;32(3):622-625
pubmed: 29219952
J Neurol. 2012 Oct;259(10):2090-9
pubmed: 22407275
Neuromuscul Disord. 2003 May;13(4):289-93
pubmed: 12868497
Brain. 2004 Aug;127(Pt 8):1868-77
pubmed: 15231584
Acta Neurol Belg. 2019 Mar;119(1):77-82
pubmed: 30536153