Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.

Autor:	Sivitskaya LN; Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Belarus., Danilenko NG; Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Belarus., Vaikhanskaya TG; Republican Scientific and Practical Center of Cardiology, Minsk, Belarus., Kurushka TV; Republican Scientific and Practical Center of Cardiology, Minsk, Belarus., Davydenko OG; Institute of Genetics and Cytology, National Academy of Sciences of Belarus, Minsk, Belarus.
Jazyk:	angličtina
Zdroj:	Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology [Acta Myol] 2017 Dec 01; Vol. 36 (4), pp. 207-212. Date of Electronic Publication: 2017 Dec 01 (Print Publication: 2017).
Abstrakt:	Three cases of delated cardiomyopathy (DCM) with conduction defects (OMIM 115200), limb girdle muscular dystrophy 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss muscular dystrophy 2 (OMIM 181350), all associated with different LMNA mutations are presented. Three heterozygous missense mutations were identified in unrelated patients - p.W520R (c.1558T > C), p.T528R (с.1583С > G) and p.R190P (c.569G > C). We consider these variants as pathogenic, leading to isolated DCM with conduction defects or syndromic DCM forms with limb-girdle muscular dystrophy and Emery-Dreifuss muscular dystrophy. The mutations were not detected in the ethnically matched control group and publicly available population databases. Their de novo occurrence led to the development of the disease that was not previously detected in the extended families. Mutations at the same codons associated with laminopathies have been already reported. Differences in the clinical phenotype for p.R190P and p.T528R carrier patients are shown and compared to previous reports.
Databáze:	MEDLINE
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