Article
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
Human mutation - 1 Sept 2018
Kiselev Artem, Vaz Raquel, Knyazeva Anastasia, Khudiakov Aleksandr, Tarnovskaya Svetlana, Liu Jiao, Sergushichev Alexey, Kazakov Sergey, Frishman Dmitrij, Smolina Natalia, Pervunina Tatiana, Jorholt John, Sjoberg Gunnar, Vershinina Tatiana, Rudenko Dmitriy, Arner Anders, Sejersen Thomas, Lindstrand Anna, Kostareva Anna
Abstract excerpt
Mutations in FLNC for a long time are known in connection to neuromuscular disorders and only recently were described in association with various cardiomyopathies. Here, we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c.3557C>T, p.A1186V, rs1114167361 in three...
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