Associated Papers
Somatic and germinal mosaicism of a canonical splicing variant causing limb-girdle muscular dystrophy type 1B.
Wang G et al.
Journal of Applied Genetics, 2025
Dilated cardiomyopathy due to novel LMNA mutation: a case report.
Patel R et al.
Frontiers in Cardiovascular Medicine, 2024
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1
New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.
Rogozhina Y et al.
Gene, 2016
Normal and aberrant splicing of LMNA.
Luo YB et al.
Journal of Medical Genetics, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Cardioembolic stroke related to limb-girdle muscular dystrophy 1B.
Chen CH et al.
Bmc Research Notes, 2013
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Scharner J et al.
Human Mutation, 2011
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.
Todorova A et al.
Journal of Medical Genetics, 2003
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