| Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. | |
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MedLine Citation:
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PMID: 22431096 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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. |
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Authors:
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Adriano Jimenez-Escrig; Isabel Gobernado; Mercedes Garcia-Villanueva; Antonio Sanchez-Herranz |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Muscle & nerve Volume: 45 ISSN: 1097-4598 ISO Abbreviation: Muscle Nerve Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-03-20 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7803146 Medline TA: Muscle Nerve Country: United States |
Other Details:
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Languages: eng Pagination: 605-10 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Wiley Periodicals, Inc. |
Affiliation:
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Servicio de Neurologia, Hospital Ramon y Cajal and Universidad de Alcala, 28034 Madrid, Spain; Unidad Central de Apoyo a Estudios Genomicos, IRYCIS, Madrid, Spain. adriano.jimenez@hrc.es. |
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