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Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
Open Access
Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion
J Finsterer
J Finsterer
,
C Stöllberger
C Stöllberger
,
A Reining-Festa
A Reining-Festa
,
M Loewe-Grgurin
M Loewe-Grgurin
and
M Gencik
M Gencik
| Dec 31, 2018
Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
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Article Category:
Case Report
Published Online:
Dec 31, 2018
Page range:
39 - 43
DOI:
https://doi.org/10.2478/bjmg-2018-0024
Keywords
Cardiac involvement
,
Creatine kinase (hyper-CKemia)
,
Multisystem disease
,
Myotonia
,
Neuromuscular
,
gene
© 2018 Finsterer J, Stöllberger C, Reining-Festa A, Loewe-Grgurin M, Gencik M, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
J Finsterer
Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna
Vienna, Austria
C Stöllberger
Department of Neurology, Krankenanstalt Rudolfstiftung
Vienna, Austria
A Reining-Festa
Neurological Department, Krankenanstalt Rudolfstiftung
Vienna, Austria
M Loewe-Grgurin
Radiological Department, Krankenanstalt Rudolfstiftung
Vienna, Austria
M Gencik
Laboratory for Human Genetics
Vienna, Austria