Article
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.
Orphanet journal of rare diseases - 14 Sept 2022
Muravyev A, Vershinina T, Tesner P, Sjoberg G, Fomicheva Yu, Čajbiková N Novák, Kozyreva A, Zhuk S, Mamaeva E, Tarnovskaya S, Jornholt J, Sokolnikova P, Pervunina T, Vasichkina E, Sejersen T, Kostareva A
Abstract excerpt
BACKGROUND: FLNC is one of the few genes associated with all types of cardiomyopathies, but it also underlies neuromuscular phenotype. The combination of concomitant neuromuscular and cardiac involvement is not often observed in filaminopathies and the impact of this on the disease prognosis has hitherto not been analyzed. RESULTS: Here we provide a detailed clinical, genetic, and structural prediction analysis...
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