Document Detail

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
MedLine Citation:
PMID:  22431096     Owner:  NLM     Status:  In-Data-Review    
Introduction: The aim of this study is to describe a new mutation in the LMNA gene diagnosed by whole exome sequencing. Methods: A two-generation kindred with recessive limb-girdle muscular dystrophy was evaluated by exome sequencing of the proband's DNA. Results: Exome sequencing disclosed 194,618 variants (170,196 SNPs, 8482 MNPs, 7466 insertions, 8307 deletions, and 167 mixed combinations); 71,328 were homozygotic and 123,290 were heterozygotic, with 11,753 non-synonymous, stop-gain, stop-loss, or frameshift mutations occurring in the coding region or nearby intronic region. The cross-referencing of these mutations in candidate genes for muscular dystrophy showed a homozygote mutation c.G674A in exon 4 of LMNA causing a protein change R225Q in an arginine conserved from human to Xenopus tropicalis and in lamin B1. Conclusions: This technique will be preferred for studying patients with muscular dystrophy in the coming years. Muscle Nerve, 2012.
Adriano Jimenez-Escrig; Isabel Gobernado; Mercedes Garcia-Villanueva; Antonio Sanchez-Herranz
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Muscle & nerve     Volume:  45     ISSN:  1097-4598     ISO Abbreviation:  Muscle Nerve     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-03-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  United States    
Other Details:
Languages:  eng     Pagination:  605-10     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Wiley Periodicals, Inc.
Servicio de Neurologia, Hospital Ramon y Cajal and Universidad de Alcala, 28034 Madrid, Spain; Unidad Central de Apoyo a Estudios Genomicos, IRYCIS, Madrid, Spain.
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