Recessive TTN mutations: Escobar syndrome, arthrogryposis, and congenital heart defect in Brazilian patients

نویسندگان

چکیده

Background: The TTN gene is related to a broad phenotype spectrum including tibial muscular dystrophy, hereditary myopathy with respiratory failure, limb girdle dystrophy 2J and dilated or hypertrophic cardiomyopathy. In 2014, Chauveau et al, described phenotypes cardiac septal defects, left ventricular non-compaction, Emery-Dreifuss arthrogryposis. 2020, Savarese showed most of patients biallelic mutations presented as congenital myopathy.

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ژورنال

عنوان ژورنال: Arquivos De Neuro-psiquiatria

سال: 2023

ISSN: ['1678-4227', '0004-282X']

DOI: https://doi.org/10.1055/s-0043-1774458