Genotype phenotype analysis in a family carrying truncating mutations in the titin gene.

doi:10.36185/2532-1900-043

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Article

Genotype phenotype analysis in a family carrying truncating mutations in the titin gene.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Mar 2021

Peddareddygari Leema Reddy, Baisre-de León Ada, Grewal Raji P

Abstract excerpt

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...

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PMID: 33870097
DOI: 10.36185/2532-1900-043
PMCID: PMC8033428

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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