Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B.
Savarese M, et al.
Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11.
Genet Med. 2020.
PMID: 32778822
Free article.
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. ...More than half of the cases had hypotonia at birth o …
PURPOSE: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has r …