Myotonic Dystrophy Steinert disease

 

 

 

 

 

 

2013 - 2012 - 2011 - 2010 - 2009 - 2008

2009 ARCHIVES

2009, December 15 - repeat size contraction
A recent publication (Puymirat et al, Neurology, 2009, 73;2126-2127) reports 2 DM1 families with paternal transmission, in which a CTG repeat size contraction was observed in all affected descendants. This observation raises the possibility that, in cases of paternal transmission, when a contraction is observed in a sibling, intergenerational contractions could be observed in all affected sibs, in different branches of the same family, and could remain stable across further generations. Because this is of major importance for genetic counseling, this needs to be confirmed in a large number of similar families. The paper can be downloaded in the Tool section

2009, December 10
Dr Daisuke Furutama, MD, PhD, Associate Professor, Department of Neurology, Osaka Medical University, died on 12/10/2009 due to hepatic failure and intracerebral hemorrhage. He was a member of IDMC, and contributed to the DM field as a researcher and as a member of the International Committee in past IDMC meetings. Many IDMC members may recall his major administrative contribution to IDMC3 in Kyoto, in which he was the administrative organizer.