Dystrophie Myotonique Steinert

Maladie de Steinert

https://www.orpha.net/pdfs/data/patho/Pub/fr/Steinert-FRfrPub77v01.pdf

201.

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

Le Ber I, Martinez M, Campion D, Laquerrière A, Bétard C, Bassez G, Girard C, Saugier-Veber P, Raux G, Sergeant N, Magnier P, Maisonobe T, Eymard B, Duyckaerts C, Delacourte A, Frebourg T, Hannequin D.

Brain. 2004 Sep;127(Pt 9):1979-92. doi: 10.1093/brain/awh216. Epub 2004 Jun 23.

PMID: 15215218

216.	Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease. Maurage CA, Udd B, Ruchoux MM, Vermersch P, Kalimo H, Krahe R, Delacourte A, Sergeant N. Neurology. 2005 Nov 22;65(10):1636-8. doi: 10.1212/01.wnl.0000184585.93864.4e. PMID: 16301494

234.

Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.

Dhaenens CM, Schraen-Maschke S, Tran H, Vingtdeux V, Ghanem D, Leroy O, Delplanque J, Vanbrussel E, Delacourte A, Vermersch P, Maurage CA, Gruffat H, Sergeant A, Mahadevan MS, Ishiura S, Buée L, Cooper TA, Caillet-Boudin ML, Charlet-Berguerand N, Sablonnière B, Sergeant N.

Exp Neurol. 2008 Apr;210(2):467-78. doi: 10.1016/j.expneurol.2007.11.020. Epub 2007 Dec 4.

PMID: 18177861