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Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations
Journal article   Open access  Peer reviewed

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations

Juergen Scharner, Charlotte A. Brown, Matthew Bower, Susan T. Iannaccone, Ismail A. Khatri, Diana Escolar, Erynn Gordon, Kevin Felice, Carol A. Crowe, Carla Grosmann, …
Human mutation, Vol.32(2), pp.152-167
02/2011
PMID: 20848652

Abstract

EDMD emerin L-CMD lamin A lamin B laminopathy LGMD nuclear envelope nuclear lamina skeletal muscle
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https://doi.org/10.1002/humu.21361View
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