Document Detail


The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy.
MedLine Citation:
PMID:  11733221     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The X-linked form of Emery-Dreifuss muscular dystrophy (X-EDMD) is caused by absence, or greatly reduced amounts, of the inner nuclear-membrane protein, emerin. The autosomal dominant form (AD-EDMD) is caused by missense mutations in lamins A and C, two components of the nuclear lamina that interact directly with emerin. Lamin A/C mutations also cause one form of dilated cardiomyopathy (CMD1A) and one form of limb-girdle muscular dystrophy (LGMD1B), both of which have clinical features in common with EDMD, as well as a rare, unrelated form of lipodystrophy (FPLD). Evidence is now emerging that defective assembly of the nuclear lamina is a feature of all these diseases, although not necessarily the direct cause. Why only heart and skeletal muscle, and possibly connective tissue, are affected in EDMD and why expression of the disease is so extremely variable between individuals remains to be explained.
Authors:
G E Morris
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Trends in molecular medicine     Volume:  7     ISSN:  1471-4914     ISO Abbreviation:  Trends Mol Med     Publication Date:  2001 Dec 
Date Detail:
Created Date:  2001-12-04     Completed Date:  2002-01-17     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  100966035     Medline TA:  Trends Mol Med     Country:  England    
Other Details:
Languages:  eng     Pagination:  572-7     Citation Subset:  IM    
Affiliation:
MRIC Biochemistry Group, The North East Wales Institute, Wrexham, UK LL11 2AW. morrisge@newi.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Animals
Genes, Dominant
Humans
Lamin Type A
Lamins
Membrane Proteins / chemistry,  genetics,  metabolism
Models, Genetic
Muscular Dystrophy, Emery-Dreifuss / genetics*,  pathology*,  physiopathology
Mutation, Missense / genetics
Nuclear Envelope / chemistry,  genetics,  pathology*
Nuclear Proteins / chemistry,  genetics,  metabolism
Phenotype
Thymopoietins / chemistry,  genetics,  metabolism
X Chromosome / genetics
Chemical
Reg. No./Substance:
0/Lamin Type A; 0/Lamins; 0/Membrane Proteins; 0/Nuclear Proteins; 0/Thymopoietins; 0/emerin

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