scholarly journals Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients

2022 ◽  
pp. 102657
Author(s):  
Sangkyun Cho ◽  
Chelsea Lee ◽  
Celine Lai ◽  
Yan Zhuge ◽  
Francois Haddad ◽  
...  
Keyword(s):  
Lmna Mutation

scholarly journals A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation

2021 ◽  
Vol 35 (4) ◽  
Author(s):  
Jingwen Tao ◽  
Jialin Duan ◽  
Xiu Pi ◽  
Hong Wang ◽  
Sheng Li
Keyword(s):  
Aortic Valve ◽  
Lmna Mutation

LMNA mutation in a patient with progeroid features and dilated cardiomyopathy

2021 ◽  
Vol 132 ◽  
pp. S108-S109
Author(s):  
Katherine Mascia ◽  
Kirstin Smith ◽  
Maria Descartes
Keyword(s):  
Dilated Cardiomyopathy ◽  
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

LMNA mutation in progeroid syndrome in association with strokes

2011 ◽  
Vol 54 (6) ◽  
pp. e576-e579 ◽  
Author(s):  
L. Gonzalez-Quereda ◽  
V. Delgadillo ◽  
J. Juan-Mateu ◽  
E. Verdura ◽  
M.J. Rodriguez ◽  
...  
Keyword(s):  
Progeroid Syndrome ◽  
Lmna Mutation

scholarly journals Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

2020 ◽  
Vol 9 (5) ◽  
pp. 1443 ◽  
Author(s):  
Przemyslaw Chmielewski ◽  
Ewa Michalak ◽  
Ilona Kowalik ◽  
Maria Franaszczyk ◽  
Malgorzata Sobieszczanska-Malek ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Laboratory ◽  
Troponin T ◽  
Multivariable Analysis ◽  
High Sensitivity ◽  
Cardiac Biomarkers ◽  
Lamin A ◽  
Lmna Mutation ◽  
Mutation Carriers

Mutations in the lamin A/C gene are variably phenotypically expressed; however, it is unclear whether circulating cardiac biomarkers are helpful in the detection and risk assessment of cardiolaminopathies. We sought to assess (1) clinical characteristics including serum biomarkers: high sensitivity troponin T (hsTnT) and N-terminal prohormone brain natriuretic peptide (NT-proBNP) in clinically stable cardiolaminopathy patients, and (2) outcome among pathogenic/likely pathogenic lamin A/C gene (LMNA) mutation carriers. Our single-centre cohort included 53 patients from 21 families. Clinical, laboratory, follow-up data were analysed. Median follow-up was 1522 days. The earliest abnormality, emerging in the second and third decades of life, was elevated hsTnT (in 12% and in 27% of patients, respectively), followed by the presence of atrioventricular block, heart failure, and malignant ventricular arrhythmia (MVA). In patients with missense vs. other mutations, we found no difference in MVA occurrence and, surprisingly, worse transplant-free survival. Increased levels of both hsTnT and NT-proBNP were strongly associated with MVA occurrence (HR > 13, p ≤ 0.02 in both) in univariable analysis. In multivariable analysis, NT-proBNP level > 150 pg/mL was the only independent indicator of MVA. We conclude that assessment of circulating cardiac biomarkers may help in the detection and risk assessment of cardiolaminopathies.

Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family

2010 ◽  
Vol 44 (3) ◽  
pp. 291-296 ◽  
Author(s):  
Hanna Drac ◽  
Agnieszka Madej-Pilarczyk ◽  
Krystyna Gospodarczyk-Szot ◽  
Małgorzata Gaweł ◽  
Hubert Kwieciński ◽  
...  
Keyword(s):  
Partial Lipodystrophy ◽  
Lmna Mutation ◽  
Familial Partial Lipodystrophy

scholarly journals Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

Stroke ◽  
2009 ◽  
Vol 40 (2) ◽  
Author(s):  
Dimitri Renard ◽  
Genevieve Fourcade ◽  
Didier Milhaud ◽  
Didier Bessis ◽  
Vera Esteves-Vieira ◽  
...  
Keyword(s):  
Werner Syndrome ◽  
Ischemic Disease ◽  
Lmna Mutation
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