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Expanding insight into myotonic dystrophy

✍ Scribed by Alfred, Jane

Book ID
109772999
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
521 KB
Volume
1
Category
Article
ISSN
1471-0056

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πŸ“œ SIMILAR VOLUMES

Expanding complexity in myotonic dystrop
Expanding complexity in myotonic dystrophy
✍ Patricia Groenen; BΓ© Wieringa πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 407 KB

Myotonic dystrophy (DM) is a highly variable multisystemic disease belonging to the rather special class of trinucleotide expansion disorders. DM results from dynamic expansion of a perfect (CTG) n repeat situated in a gene-dense region on chromosome 19q. Based on findings in patient materials or ce

Myotonic dystrophy comes into focus
Myotonic dystrophy comes into focus
✍ Alfred, Jane πŸ“‚ Article πŸ“… 2001 πŸ› Nature Publishing Group 🌐 English βš– 220 KB
Myotonic dystrophy expanded CUG repeats
Myotonic dystrophy expanded CUG repeats disturb the expression and phosphorylation of Ο„ in PC12 cells
✍ Oscar HernΓ‘ndez-HernΓ‘ndez; Mario BermΓΊdez-de-LeΓ³n; Pablo GΓ³mez; Prisiliana VelΓ‘z πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 490 KB

## Abstract Mental retardation is a main feature of the congenital form of myotonic dystrophy (DM1), however, the molecular mechanisms underlying the central nervous system symptoms of DM1 are poorly understood. We have established a PC12 cell line‐based model expressing the DM1 expanded CUG repeat