A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

LMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for...

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Autores principales: Ishiyama, Akihiko, Iida, Aritoshi, Hayashi, Shinichiro, Komaki, Hirofumi, Sasaki, Masayuki, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054619/
https://www.ncbi.nlm.nih.gov/pubmed/30083363
http://dx.doi.org/10.1038/s41439-018-0018-6
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author Ishiyama, Akihiko
Iida, Aritoshi
Hayashi, Shinichiro
Komaki, Hirofumi
Sasaki, Masayuki
Nonaka, Ikuya
Noguchi, Satoru
Nishino, Ichizo
author_facet Ishiyama, Akihiko
Iida, Aritoshi
Hayashi, Shinichiro
Komaki, Hirofumi
Sasaki, Masayuki
Nonaka, Ikuya
Noguchi, Satoru
Nishino, Ichizo
author_sort Ishiyama, Akihiko
collection PubMed
description LMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for muscle diseases to obtain a molecular diagnosis in a Japanese girl with L-CMD. A novel heterozygous missense mutation, c.115A>C (p.Asn39His), in LMNA is reported.
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spelling pubmed-60546192018-08-06 A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy Ishiyama, Akihiko Iida, Aritoshi Hayashi, Shinichiro Komaki, Hirofumi Sasaki, Masayuki Nonaka, Ikuya Noguchi, Satoru Nishino, Ichizo Hum Genome Var Data Report LMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for muscle diseases to obtain a molecular diagnosis in a Japanese girl with L-CMD. A novel heterozygous missense mutation, c.115A>C (p.Asn39His), in LMNA is reported. Nature Publishing Group UK 2018-07-20 /pmc/articles/PMC6054619/ /pubmed/30083363 http://dx.doi.org/10.1038/s41439-018-0018-6 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Ishiyama, Akihiko
Iida, Aritoshi
Hayashi, Shinichiro
Komaki, Hirofumi
Sasaki, Masayuki
Nonaka, Ikuya
Noguchi, Satoru
Nishino, Ichizo
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
title A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
title_full A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
title_fullStr A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
title_full_unstemmed A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
title_short A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
title_sort novel lmna mutation identified in a japanese patient with lmna-associated congenital muscular dystrophy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054619/
https://www.ncbi.nlm.nih.gov/pubmed/30083363
http://dx.doi.org/10.1038/s41439-018-0018-6
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