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 genotype–phenotype correlations in this cohort. Methods: We analyzed clinical and genetic data in a cohort of patients with biallelic pathogenic or likely pathogenic TTN variants. The cohort included both previously reported cases (100 patients from 81 unrelated families) and unreported cases (23 patients from 20 unrelated families). Resu...
IMPORTANCE: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpr...
Contains fulltext : 196367.pdf (Publisher’s version ) (Open Access)OBJECTIVE: Comp...
Abstract The aim of this study was to analyze patients from two distinct families with a novel dista...
Purpose: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin ...
High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) cod...
Purpose High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (...
Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of t...
Importance: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interp...
IMPORTANCE: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpr...
Contains fulltext : 196367.pdf (Publisher’s version ) (Open Access)OBJECTIVE: Comp...
Abstract The aim of this study was to analyze patients from two distinct families with a novel dista...
Purpose: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin ...
High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) cod...
Purpose High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (...
Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of t...
Importance: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interp...
IMPORTANCE: Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpr...
Contains fulltext : 196367.pdf (Publisher’s version ) (Open Access)OBJECTIVE: Comp...
Abstract The aim of this study was to analyze patients from two distinct families with a novel dista...