Genotype-phenotype correlations in recessive titinopathies.

doi:10.1038/s41436-020-0914-2

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Article

Genotype-phenotype correlations in recessive titinopathies.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2020

Savarese Marco, Vihola Anna, Oates Emily C, Barresi Rita, Fiorillo Chiara, Tasca Giorgio, Jokela Manu, Sarkozy Anna, Luo Sushan, Díaz-Manera Jordi, Ehrstedt Christoffer, Rojas-García Ricardo, Sáenz Amets, Muelas Nuria, Lonardo Fortunato, Fodstad Heidi, Qureshi Talha, Johari Mridul, Välipakka Salla, Luque Helena, Petiot Philippe, de Munain Adolfo López, Pane Marika, Mercuri Eugenio, Torella Annalaura, Nigro Vincenzo, Astrea Guja, Santorelli Filippo Maria, Bruno Claudio, Kuntzer Thierry, Illa Isabel, Vílchez Juan J, Julien Cedric, Ferreiro Ana, Malandrini Alessandro, Zhao Chong-Bo, Casar-Borota Olivera, Davis Mark, Muntoni Francesco, Hackman Peter, Udd Bjarne

Abstract excerpt

PURPOSE: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and (2) to evaluate...

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PMID: 32778822
DOI: 10.1038/s41436-020-0914-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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