MYOTONIC DYSTROPHY-2: UNUSUAL PHENOTYPE
DUE TO A SMALL CCTG-EXPANSION
Finsterer J, Stöllberger C, Reining-Festa A, Loewe-Grgurin M, Gencik M
*Corresponding Author: Josef Finsterer, M.D., Ph.D., Krankenanstalt Rudolfstiftung, Messerli Institute,
Veterinary University of Vienna, Postfach 20, 1180 Vienna, Austria. Tel. +43-1-71165-92085.
Fax. +43-1-4781711. E-mail: fifigs1@yahoo.de
page: 39
|
|
REFERENCES
1. Gourdon G, Meola G. Myotonic dystrophies: State
of the art of new therapeutic developments for the
CNS. Front Cell Neurosci. 2017; 11: 101.
2. Finsterer J, Stöllberger C. Myotonic dystrophy-1
complicated by factor-v (Leyden) mutation. Case
Rep Med. 2015; 2015: 271639.
3. Mohamed S, Pruna L, Kaminsky P. Increasing risk
of tumors in myotonic dystrophy type 1. Presse Med.
2013; 42(9): e281-e284.
4. Dalvin LA, Shields CL, Pulido JS, Sioufi K, Cohen
V, Shields JA. Uveal melanoma associated with myotonic
dystrophy: A report of 6 cases. JAMA Ophthalmol.
2018; 136(5): 543-547.
5. Marcoval J, Olive M, Bonfill-Orti M, Martinez-Molina
L, Talavera-Belmonte A. Cutaneous neoplasms
in myotonic dystrophy type 1. Dermatology. 2016;
232(6): 700-703.
6. Campione E, Botta A, Di Prete M, Rastelli E, Gibellini
M, Petrucci A, et al. Cutaneous features of myotonic
dystrophy types 1 and 2: Implication of premature
aging and vitamin D homeostasis. Neuromuscul
Disord. 2017; 27(2): 163-169.
7. Win AK, Perattur PG, Pulido JS, Pulido CM, Lindor
NM. Increased cancer risks in myotonic dystrophy.
Mayo Clin Proc. 2012; 87(2): 130-135.
8. Finsterer J. Myotonic dystrophy type 1 and 2. In:
Burgess VN, Editor. Progress in Muscular Dystrophy
Research. Hauppauge, NY, USA: Nova Science
Publishers. 2005; 149-180. (ISBN: 1-59454-375-5.)
9. Addeo A, Bini R, Viora T, Bonaccorsi L, Leli R. Von
Hippel-Lindau and myotonic dystrophy of Steinert
along with pancreatic neuroendocrine tumor and renal
clear cell carcinomal neoplasm: Case report and
review of the literature. Int J Surg Case Rep. 2013;
4(8): 648-650.
10. Mavridou P, Dimitriou V, Margaritis A, Manataki A.
Anesthesia for laparoscopic surgery in a patient with
myotonic dystrophy (Steinert’s disease): Beneficial
use of sugammadex, but incorrect use of pethidine:
A case report. Acta Anaesthesiol Belg 2011; 62(2):
101-104.
|
|
|
|
 |
Number 27
VOL. 27 (2), 2024 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
