Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood

被引：0
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作者：
A. Muravyev
T. Vershinina
P. Tesner
G. Sjoberg
Yu. Fomicheva
N. Novák Čajbiková
A. Kozyreva
S. Zhuk
E. Mamaeva
S. Tarnovskaya
J. Jornholt
P. Sokolnikova
T. Pervunina
E. Vasichkina
T. Sejersen
A. Kostareva
机构：
[1] Almazov National Medical Research Centre,Department of Biology and Medical Genetics, 2nd Faculty of Medicine
[2] Charles University and University Hospital Motol,Department of Women’s and Children’s Health, Center for Molecular Medicine
[3] Karolinska Institute,undefined
来源：
Orphanet Journal of Rare Diseases | / 17卷
关键词：
Genes; Mutation; -associated phenotype; Restrictive cardiomyopathy; Congenital myopathy; Rare clinical phenotype; Childhood; Unfavourable prognosis;
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