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      De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy

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          Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

          Restrictive cardiomyopathy (RCM) is characterized by nondilated left or right ventricle with diastolic dysfunction. The restrictive cardiomyopathies are a heterogenous group of myocardial diseases that vary according to pathogenesis, clinical presentation, diagnostic evaluation and criteria, treatment, and prognosis. In this review, an overview of RCMs will be presented followed by a detailed discussion on 3 major causes of RCM, for which tailored interventions are available: cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis. Each of these 3 RCMs is challenging to diagnose, and recognition of each disease entity is frequently delayed. Clinical clues to promote recognition of cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis and imaging techniques used to facilitate diagnosis are discussed. Disease-specific therapies are reviewed. Early recognition remains a key barrier to improving survival in all RCMs.
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            Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

            To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated.
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              Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.

              Mutations in different genes encoding sarcomeric proteins are responsible for 50-60% of familial cases of hypertrophic cardiomyopathy (HCM); however, the genetic alterations causing the disease in one-third of patients are currently unknown. Here we describe a case with familial HCM of unknown cause. Whole-exome sequencing reveals a variant in the gene encoding the sarcomeric protein filamin C (p.A1539T) that segregates with the disease in this family. Sequencing of 92 HCM cases identifies seven additional variants segregating with the disease in eight families. Patients with FLNC mutations show marked sarcomeric abnormalities in cardiac muscle, and functional analysis reveals that expression of these FLNC variants resulted in the formation of large filamin C aggregates. Clinical studies indicate that FLNC-mutated patients have higher incidence of sudden cardiac death. On the basis of these findings, we conclude that mutations in the gene encoding the sarcomeric protein filamin C cause a new form of familial HMC.
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                Author and article information

                Journal
                Human Mutation
                Human Mutation
                Wiley
                10597794
                September 2018
                September 2018
                June 17 2018
                : 39
                : 9
                : 1161-1172
                Affiliations
                [1 ]Almazov National Medical Research Centre; Saint Petersburg Russia
                [2 ]Department of Molecular Medicine and Surgery and Center for molecular medicine; Karolinska Institutet; Stockholm Sweden
                [3 ]Peter the Great St.Petersburg Polytechnic University; Saint Petersburg Russia
                [4 ]Department of Physiology and Pharmacology; Karolinska Institutet; Stockholm Sweden
                [5 ]ITMO University; Saint Petersburg Russia
                [6 ]Department of Bioinformatics; Technische Universität München; Wissenschaftszentrum Weihenstephan; Freising Germany
                [7 ]Department of Women's and Children's Health and Center for Molecular Medicine; Karolinska Institute; Stockholm Sweden
                [8 ]City Hospital 2; Saint Petersburg Russia
                [9 ]Clinical Genetics; Karolinska University Laboratory; Karolinska University Hospital; Stockholm Sweden
                Article
                10.1002/humu.23559
                29858533
                2e5521e3-43b2-46a0-9207-83723a1b65fa
                © 2018

                http://doi.wiley.com/10.1002/tdm_license_1.1

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