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

2002 ◽  
Vol 47 (5) ◽  
pp. 225-228 ◽  
Author(s):  
C.-S. Ki ◽  
J.S. Hong ◽  
G.-Y. Jeong ◽  
K. J. Ahn ◽  
K.-M. Choi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Gene Mutations ◽  
Limb Girdle Muscular Dystrophy ◽  
Lamin A ◽  
Lmna Gene ◽  
Korean Patients

A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block

2001 ◽  
Vol 11 (6-7) ◽  
pp. 542-546 ◽  
Author(s):  
Tetsuo Kitaguchi ◽  
Shiro Matsubara ◽  
Masaru Sato ◽  
Kazuhito Miyamoto ◽  
Shunsaku Hirai ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
Conduction Block ◽  
Limb Girdle Muscular Dystrophy ◽  
Cardiac Conduction ◽  
Lamin A ◽  
Japanese Case

Identification of a lamin A/C gene mutation in a Taiwanese family with limb girdle muscular dystrophy and cardiomyopathy

2010 ◽  
Vol 145 (3) ◽  
pp. 598-599 ◽  
Author(s):  
Shu-Hsuan Chang ◽  
Chia-Ti Tsai ◽  
Ling-Ping Lai ◽  
Meng-Huan Lei
Keyword(s):  
Muscular Dystrophy ◽  
Gene Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Lamin A

Limb Girdle Muscular Dystrophy, Autosomal Dominant Type 1C

2009 ◽  
pp. 1179-1180
Author(s):  
Alexander K. C. Leung ◽  
William Lane M. Robson ◽  
Carsten Büning ◽  
Johann Ockenga ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Limb Girdle Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

Molecular signatures of Emery–Dreifuss muscular dystrophy

2008 ◽  
Vol 36 (6) ◽  
pp. 1354-1358 ◽  
Author(s):  
Matthew A. Wheeler ◽  
Juliet A. Ellis
Keyword(s):  
Muscular Dystrophy ◽  
Dilated Cardiomyopathy ◽  
Molecular Mechanisms ◽  
Autosomal Dominant ◽  
Signalling Pathways ◽  
Lamin A ◽  
Degenerative Diseases ◽  
Hypertrophic Growth ◽  
Genes Encoding

Mutations in genes encoding the nuclear envelope proteins emerin and lamin A/C lead to a range of tissue-specific degenerative diseases. These include dilated cardiomyopathy, limb-girdle muscular dystrophy and X-linked and autosomal dominant EDMD (Emery–Dreifuss muscular dystrophy). The molecular mechanisms underlying these disorders are poorly understood; however, recent work using animal models has identified a number of signalling pathways that are altered in response to the deletion of either emerin or lamin A/C or expression of Lmna mutants found in patients with laminopathies. A distinguishing feature of patients with EDMD is the association of a dilated cardiomyopathy with conduction defects. In the present article, we describe several of the pathways altered in response to an EDMD phenotype, which are known to be key mediators of hypertrophic growth, and focus on a possible role of an emerin–β-catenin interaction in the pathogenesis of this disease.

PO19-WE-13 Autosomal dominant limb-girdle muscular dystrophy linked to chromosome 7Q36: description of a phenotype

2009 ◽  
Vol 285 ◽  
pp. S268
Author(s):  
I. Mahjneh ◽  
S. Sandell ◽  
J. Sarparanta ◽  
H. Luque ◽  
S. Huovinen ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Limb Girdle Muscular Dystrophy

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

2004 ◽  
Vol 83 (1) ◽  
pp. 79-83 ◽  
Author(s):  
Jop H. van Berlo ◽  
Willem G. de Voogt ◽  
Anneke J. van der Kooi ◽  
J. Peter van Tintelen ◽  
Gisèle Bonne ◽  
...  
Keyword(s):  
High Risk ◽  
Sudden Death ◽  
Clinical Characteristics ◽  
Meta Analysis ◽  
Gene Mutations ◽  
Lamin A ◽  
Lmna Gene
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