Document Detail


Myotonic dystrophy type 2 and related myotonic disorders.
MedLine Citation:
PMID:  15503094     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The myotonic dystrophies are a group of dominantly inherited disorders characterized by muscle wasting, myotonia, cataracts, hypogonadism and other system manifestations. Myotonic dystrophy type 1 (DM1) results from an unstable expansion of a CTG repeat in 3' UTR of the DM protein kinase (DMPK) gene on chromosome 19q 13.3. Myotonic dystrophy type 2 (DM2) is caused by an unstable expansion of a CCTG tetraplet repeat in intron 1 of the zinc finger 9 (ZFN9 gene) on chromosome 3q 21.3. However, the clinical diagnosis of DM2 is more complex than that of DM1, and conventional molecular genetic methods used for diagnosis of DM1 are not helpful for DM2. We here describe the detailed clinical, laboratory and biomolecular tests to identify DM2 and related myotonic disorders. At present, foci of accumulated noncoding CCTG repeat RNA (ribonuclear inclusions) in the cell nuclei are thought to interfere with the regulation and expression of several genes at the basis of multisystemic aspects of myotonic dystrophy type 2.
Authors:
Giovanni Meola; Richard T Moxley
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Journal of neurology     Volume:  251     ISSN:  0340-5354     ISO Abbreviation:  J. Neurol.     Publication Date:  2004 Oct 
Date Detail:
Created Date:  2004-10-25     Completed Date:  2005-02-22     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1173-82     Citation Subset:  IM    
Affiliation:
Department of Neurology, University of Milan, Istituto Policlinico San Donato, Via Morandi 30, 20097 San Donato Milanese, Milan, Italy. giovanni.meola@unimi.it
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MeSH Terms
Descriptor/Qualifier:
Brain / physiopathology
Cataract / etiology
Chromosomes, Human, Pair 19
Endocrine System / physiopathology
Heart / physiopathology
Humans
Hyperhidrosis / etiology
Muscle, Skeletal / physiopathology
Myotonic Disorders / complications,  genetics*
Myotonic Dystrophy / classification,  complications,  genetics*
Neuromuscular Junction / physiopathology
Trinucleotide Repeat Expansion
Grant Support
ID/Acronym/Agency:
FD-R-001662/FD/FDA HHS; M01 RR00044/RR/NCRR NIH HHS; N01 AR02250/AR/NIAMS NIH HHS; R01 AR44069/AR/NIAMS NIH HHS; R01 AR49077/AR/NIAMS NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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