Linked Life Data

17486579

Source:http://linkedlifedata.com/resource/pubmed/id/17486579

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2007-8-7
pubmed:abstractText
Myotonic dystrophy types 1 (DM1) and 2 (DM2) are similar yet distinct autosomal-dominant disorders characterized by muscle weakness, myotonia, cataracts, and multiple organ involvement, including the brain. One key difference between DM1 and DM2 is that a congenital form has been described for DM1 only. Expression of RNA transcripts containing pathogenic repeat lengths produces defects in alternative splicing of multiple RNAs, sequesters specific repeat-binding proteins, and ultimately leads to developmentally inappropriate splice products for a particular tissue. Whether brain pathology in its entirety in adult DM1 and DM2 is caused by interference in RNA processing remains to be determined. This review focuses on the similarities and differences between DM1 and DM2 with respect to neuropsychological, neuropathological, and neuroimaging data relating to cerebral involvement, with special emphasis on the clinical relevance and social consequences of such involvement.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0148-639X
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
294-306
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Cerebral involvement in myotonic dystrophies.
pubmed:affiliation
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, San Donato Hospital, Via Morandi 30, 20097 San Donato Milanese, Milan, Italy. giovanni.meola@unimi.it
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't