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

INTRODUCTION

Myotonic dystrophy type 1 (MD1) and type 2 (MD2) are both multisystem disorders, potentially affecting each organ or tissue (Table 1) [1]. Though MD1 and MD2 frequently demonstrate elevation of creatine kinase (hyper- CKemia), cholesterol, or with diabetes, long-term asymptomatic hyper-CKemia of more than 20 years duration in association with hyperlipidemia and diabetes, as in the following patient with MD2, has not been reported.



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