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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Bibliographic Details
Published in:Hum Genome Var
Main Authors: Ishiyama, Akihiko, Iida, Aritoshi, Hayashi, Shinichiro, Komaki, Hirofumi, Sasaki, Masayuki, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2018
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Data Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6054619/
https://ncbi.nlm.nih.gov/pubmed/30083363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0018-6
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