Browsing by Subject "connectin"

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    Hypertrophic cardiomyopathy: Pathological features and molecular pathogenesis
    (2004) Çam F.S.; Cüray M.
    Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic cardiac disorder with various genotypic and phenotypic manifestations, and is often a diagnostic challenge. Although more than forty years have passed since the first description of HCM, a variety of mutations in genes encoding sarcomeric proteins, that cause the disease have been defined by laboratory and clinical studies over the past few years. The fact that HCM is the most common cause of sudden death in young competitive athletes and that it is actually an important cause of morbidity and mortality in people of all ages, has made the researchers to concentrate more on the molecular basis and treatment strategies of the disease. This study aims to summarize both pathological features and rapidly evolving molecular genetics of HCM, and so to understand this not infrequently seen, complex disorder better.
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    Childhood onset limb-girdle muscular dystrophies in the aegean part of Turkey
    (Pacini Editore S.p.A., 2018) Yiş U.; Diniz G.; Hazan F.; Daimagüler H.S.; Baysal B.T.; Baydan F.; Akinci G.; Ünalp A.; Aktan G.; Bayram E.; Hiz S.; Paketçi C.; Okur D.; Özer E.; Danyeli A.E.; Polat M.; Uyanik G.; Çirak S.
    The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders. © 2018 Pacini Editore S.p.A. All rights reserved.