• Home
  • Search Results
  • Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology (2013-07-16)
Nicola Carboni, Luisa Politano, Matteo Floris, Anna Mateddu, Elisabetta Solla, Stefania Olla, Lorenzo Maggi, Maria Antonietta Maioli, Rachele Piras, Eleonora Cocco, Giovanni Marrosu, Maria Giovanna Marrosu
ABSTRACT

Mutations on the LMNA gene are responsible for an heterogeneous group of diseases. Overlapping syndromes related to LMNA gene alterations have been extensively reported. Study scope is to perform a systematic analysis of the overlapping syndromes so far described and to try to correlate the clinical features to the associated genetic alterations. We evaluated all the dominant overlapping syndromes reported by means of a PubMed search and by the analysis of the main databases containing the pathogenic LMNA gene variations and the associated diseases. Metabolic alterations in association to skeletal and/or cardiac alterations proved to be the most frequent overlap syndrome. Overlapping syndromes are mostly associated to inframe mutations in exons 1, 2, 8 and 9. These data further improve the understanding of the pathogenesis of laminopathies.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Deoxyribonucleic acid, single stranded from salmon testes, For hybridization
Sigma-Aldrich
Deoxyribonucleic acid, single stranded from salmon testes, For hybridization
Sigma-Aldrich
Deoxyribonucleic acid sodium salt from herring testes, Type XIV
Sigma-Aldrich
Plasmid DNA from E. coli RRI, pUC19, buffered aqueous solution
Sigma-Aldrich
Plasmid DNA from E. coli RRI, pUC18, buffered aqueous solution
Sigma-Aldrich
Deoxyribonucleic acid from human placenta, buffered aqueous solution, sexed, female
Sigma-Aldrich
Deoxyribonucleic acid sodium salt from human placenta, Type XIII
Sigma-Aldrich
Deoxyribonucleic acid from Micrococcus luteus (lysodeikticus), Type XI, Highly polymerized
Sigma-Aldrich
Anti-Lamin A/C R482W antibody, Mouse monoclonal, clone 5H8-B4, purified from hybridoma cell culture
Sigma-Aldrich
Anti-Lamin A/C R453W antibody, Mouse monoclonal, clone 12A-2F5, purified from hybridoma cell culture
Sigma-Aldrich
Deoxyribonucleic acid, single stranded from human placenta

Social Media

LinkedIn icon
Twitter icon
Facebook Icon
Instagram Icon

MilliporeSigma

Research. Development. Production.

We are a leading supplier to the global Life Science industry with solutions and services for research, biotechnology development and production, and pharmaceutical drug therapy development and production.

© 2021 Merck KGaA, Darmstadt, Germany and/or its affiliates. All Rights Reserved.

Reproduction of any materials from the site is strictly forbidden without permission.