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Total 76 results found since Jan 2013.
Genotype phenotype analysis in a family carrying truncating mutations in the titin gene
We report a family carrying a previously described truncating mutation, NM_001267550.2(TTN):c.107889del p.(Lys35963Asnfs*9) in exon 364, and a novel truncating mutation, NM_001267550.1:c.100704C > A p.(Tyr33568*) in exon 358 in the titin gene. The c.107889del mutation, which was maternally transmitted, has been previously described in patients from the Iberian Peninsula. The mother was of Peruvian descent suggesting a potential European ancestral origin of this mutation. In this family, a daughter, who is a compound heterozygote carrying both these mutations, developed a peripartum cardiomyopathy during her second pregn...
Source: Acta Myologica - April 19, 2021 Category: Neurology Authors: Leema Reddy Peddareddygari Ada Baisre-de Le ón Raji P Grewal Source Type: research
