scholarly journals Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy

2015 ◽  
Vol 12 (4) ◽  
pp. 5065-5071 ◽  
Author(s):  
LI ZHANG ◽  
HONGRUI SHEN ◽  
ZHE ZHAO ◽  
QI BING ◽  
JING HU
Keyword(s):  
Muscular Dystrophy ◽  
Cardiac Effects ◽  
Lmna Mutation

G.P.4.01 Rare congenital presentation of Emery-Dreifuss muscular dystrophy due to a novel de-novo LMNA mutation R249W

2006 ◽  
Vol 16 (9-10) ◽  
pp. 675 ◽  
Author(s):  
L. Medne ◽  
A. Glanzman ◽  
J. Flickinger ◽  
T. Estilow ◽  
M. Rozenberg ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
De Novo ◽  
Lmna Mutation

First report of a novel LMNA mutation in a Chinese family with limb–girdle muscular dystrophy

2014 ◽  
Vol 93 (3) ◽  
pp. 843-847 ◽  
Author(s):  
GUO HONG ◽  
ZHOU DAN ◽  
DAI LIMENG ◽  
CHI LUXIANG ◽  
YUN BAI
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Chinese Family ◽  
First Report ◽  
Lmna Mutation

scholarly journals Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

2007 ◽  
Vol 106 (2) ◽  
pp. S27-S31 ◽  
Author(s):  
Wen-Chen Liang ◽  
Chung-Yee Yuo ◽  
Chun-Ya Liu ◽  
Chee-Siong Lee ◽  
Kanako Goto ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Lmna Mutation

A new LMNA mutation causing limb girdle muscular dystrophy 1B

2005 ◽  
Vol 252 (5) ◽  
pp. 621-623 ◽  
Author(s):  
S. Spuler ◽  
Ch. Geier ◽  
K. J. Osterziel ◽  
M. Gutberlet ◽  
J. Genschel ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Lmna Mutation

scholarly journals Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

2004 ◽  
Vol 14 (1) ◽  
pp. 155-169 ◽  
Author(s):  
Takuro Arimura ◽  
Anne Helbling-Leclerc ◽  
Catherine Massart ◽  
Shaida Varnous ◽  
Florence Niel ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mouse Model ◽  
Dilated Cardiomyopathy ◽  
Striated Muscle ◽  
Lmna Mutation

Novel LMNA Mutation Presenting as Severe Congenital Muscular Dystrophy

2010 ◽  
Vol 43 (4) ◽  
pp. 283-286 ◽  
Author(s):  
Cynthia Prigogine ◽  
Pascale Richard ◽  
Peter Van den Bergh ◽  
José Groswasser ◽  
Nicolas Deconinck
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Lmna Mutation

EP.23A novel LMNA mutation identified in an Argentinian patient with autosomal dominant Emery-Dreifuss muscular dystrophy phenotype

2019 ◽  
Vol 29 ◽  
pp. S76-S77
Author(s):  
C. Azcona ◽  
M. Bettini ◽  
C. Belziti ◽  
M. Brogger ◽  
M. Rugiero
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Lmna Mutation
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