Document Detail


LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy.
MedLine Citation:
PMID:  15452315     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The authors report a girl with autosomal recessive congenital muscular dystrophy linked to chromosome 6 (MDC1A) who carries a homozygous out-of-frame deletion in exon 56 of the LAMA2 gene but has a mild phenotype. She is still ambulant at age 13 years, shows white matter abnormalities on MRI, and traces of laminin alpha2 in her muscle biopsy with one of three antibodies used. This patient suggests that modulating factors can be associated with a less severe clinical phenotype in MDC1A.
Authors:
P Prandini; A Berardinelli; M Fanin; F Morello; E Zardini; A Pichiecchio; C Uggetti; G Lanzi; C Angelini; E Pegoraro
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  63     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2004 Sep 
Date Detail:
Created Date:  2004-09-28     Completed Date:  2005-05-18     Revised Date:  2012-02-22    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1118-21     Citation Subset:  AIM; IM    
Affiliation:
Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Biopsy
Brain / pathology
Child
Chromosomes, Human, Pair 6 / genetics
Exons / genetics
Female
Genes, Recessive
Homozygote
Humans
Intellectual Disability / genetics
Laminin / analysis,  deficiency*,  genetics,  physiology
Magnetic Resonance Imaging
Muscle, Skeletal / chemistry,  pathology
Muscular Dystrophies / congenital,  genetics*
Sequence Analysis, DNA
Sequence Deletion*
Grant Support
ID/Acronym/Agency:
1114//Telethon; GTF02009//Telethon
Chemical
Reg. No./Substance:
0/Laminin; 0/laminin alpha 2

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


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