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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.

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