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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Detalles Bibliográficos
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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