Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B

Abstract

our knowledge, this is the first report of LMNA gene mutations in Korean patients with EDMD2 and LGMD1B.

Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

“…Another distinct finding was the small extent of dilatation for a mutant gene often described as a cause of DCM. Despite severe cardiac complications in laminopathies, this observation has been made before (35)(36)(37)(38)(39). Therefore these combined data suggest that LMNA mutations might cause a distinct cardiomyopathy, characterized by fibrosis and rather limited cardiac dilatation, which suggests a distinct disease entity within the spectrum of idiopathic "dilated" cardiomyopathy.…”

Intermediate filaments: primary determinants of cell architecture and plasticity

“…According to the specific tissue localization of the proteins, mutations that affect the salt bridge in epidermal keratins lead to blistering diseases, in desmin they lead to muscular dystrophy, and in GFAP they lead to Alexander disease (57)(58)(59)(60)(61)(62)(63)(64). In contrast, mutation of lamin A arginine 377, the arginine residue that corresponds to arginine 401 in vimentin, to either leucine or histidine gives rise to limb-girdle muscular dystrophy type 1B and Emery-Dreifuss muscular dystrophy (65)(66)(67). Moreover, the R377H mutation can also cause dilated cardiomyopathy type A (68).…”

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

“…9696 c.746G>A 4 p.R249Q Missense Coil 2a (Benedetti, et al, 2007;Ki, et al, 2002;Muchir, et al, 2004;Raffaele Di Barletta, et al, 2000;Rudenskaya, et al, 2008;Vytopil, et al, 2003) (Onishi, et al, 2002) 2570 c.1072G>A 6 p.E358K Missense Coil 2b (Benedetti, et al, 2007;Mercuri, et al, 2004;Quijano-Roy, et al, 2008) (Benedetti, et al, 2007;Bonne, et al, 1999;Brette, et al, 2004;Colomer, et al, 2002;Fidzianska and Glinka, 2006;Golzio, et al, 2007;Muchir, et al, 2004;Raffaele Di Barletta, et al, 2000;Vytopil, et al, 2003) (Arbustini, et al, 2005) 7288 c.1580G>C 9 p.R527P Missense Tail (Ig-fold) (Benedetti, et al, 2007;Bonne, et al, 1999;Raffaele Di Barletta, et al, 2000;van der Kooi, et al, 2002) 1527 c.1583C>A 9 p.T528K Missense Tail (Ig-fold) (Benedetti, et al, 2007;Fokkema, et al, 2005;Raffaele Di Barletta, et al, 2000) 1200 c.1583C>G 9 p.T528R Missense Tail (Ig-fold) (Fokkema, et al, 2005;Vytopil, et al, 2003) (Bakay, et al, 2006;Young, et al, 2005) 51 c.1930C>T 11 p.R644C Missense Tail (Lamin A specific) (Csoka, et al, 2004;Genschel, et al, 2001;Mercuri, et al, 2005;Muntoni, et al, 2006;Pasotti, et al, 2008;…”