Document Detail


A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
MedLine Citation:
PMID:  15367920     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Limb-girdle muscular dystrophy (LGMD) is a genetic disorder characterized by progressive weakness of pelvic and scapular girdles and great clinical variability. It is a highly heterogeneous disease with 16 identified loci: six of them autosomal dominant (AD) (LGMD1) and 10 autosomal recessive (AR) (LGMD2). The responsible genes are known for three of the AD-LGMD and for all 10 AR-LGMD. Linkage analysis excluded these 16 loci in a Brazilian-Caucasian family with 12 patients affected by AD late-onset LGMD associated with progressive fingers and toes flexion limitation. Biceps muscle biopsy from one of the patients showed a predominantly myopathic histopathological pattern, associated with rimmed vacuoles. A genomewide scan was performed which mapped a new locus for this disorder at 4p21 with a maximum two-point lod score of 6.62 for marker D4S2964. Flanking markers place this locus between D4S2947 and D4S2409, within an interval of 9 cM. We propose to classify this AD form of LGMD as LGMD1G.
Authors:
Alessandra Starling; Fernando Kok; Maria Rita Passos-Bueno; Mariz Vainzof; Mayana Zatz
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  12     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2004 Dec 
Date Detail:
Created Date:  2004-11-19     Completed Date:  2005-03-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1033-40     Citation Subset:  IM    
Affiliation:
Human Genome Research Center, Department of Biology, University of São Paulo, São Paulo, Brazil.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Mapping
Chromosomes, Human, Pair 4*
Creatine Kinase / blood
Female
Fingers / abnormalities*
Genes, Dominant*
Haplotypes
Humans
Linkage (Genetics)
Male
Muscles / pathology
Muscular Dystrophies, Limb-Girdle / blood,  genetics*,  physiopathology
Pedigree
Toes / abnormalities*
Chemical
Reg. No./Substance:
EC 2.7.3.2/Creatine Kinase
Comments/Corrections
Erratum In:
Eur J Hum Genet. 2005 Feb;13(2):264

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


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