Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy

2007 ◽  
Vol 19 (1) ◽  
pp. 1-7 ◽  
Author(s):  
Loizos Antoniades ◽  
Christos Eftychiou ◽  
Theodoros Kyriakides ◽  
Kyproula Christodoulou ◽  
Demosthenes G. Katritsis
Keyword(s):  
Muscular Dystrophy ◽  
Sudden Death ◽  
Conduction System ◽  
Limb Girdle Muscular Dystrophy ◽  
Lamin A ◽  
Mild Form ◽  
System Disease ◽  
Conduction System Disease

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

2001 ◽  
Vol 7 (3) ◽  
pp. 249-256 ◽  
Author(s):  
Petra M. Jakobs ◽  
Emily L. Hanson ◽  
Kathy A. Crispell ◽  
Warren Toy ◽  
Hugh Keegan ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Conduction System ◽  
Lamin A ◽  
System Disease ◽  
Conduction System Disease

scholarly journals A rare cause of familial atrioventricular block with a novel LMNA mutation (p. Ala502Val)

2021 ◽  
Vol 2 (4) ◽  
Author(s):  
Drissa Mariem ◽  
◽  
Yaakoubi Wael ◽  
Helali Sana ◽  
Hbiba Drissa ◽  
...  
Keyword(s):  
Heart Disease ◽  
Dilated Cardiomyopathy ◽  
Atrioventricular Block ◽  
Conduction System ◽  
Lamin A ◽  
System Disease ◽  
Lmna Mutation ◽  
Clinical Scenarios ◽  
Conduction System Disease

Mutation in LMNA accounts for 10% of Dilated Cardiomyopathy (DCM). It is characterised by progressive conduction system disease, arrhythmia and systolic impairment, lamin A/C heart disease is the most malignant gene common in DCMs especially in man. It is likely to be an under-recognised cause of this cardiomyopathy. In certain clinical scenarios, particularly familial DCM with early conduction disease, the probability of finding an LMNA mutation may be quite high.

scholarly journals Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

1999 ◽  
Vol 341 (23) ◽  
pp. 1715-1724 ◽  
Author(s):  
Diane Fatkin ◽  
Calum MacRae ◽  
Takeshi Sasaki ◽  
Matthew R. Wolff ◽  
Maurizio Porcu ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Conduction System ◽  
Lamin A ◽  
Missense Mutations ◽  
System Disease ◽  
Conduction System Disease
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