Genotype-phenotype correlations in recessive titinopathies.
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Ошибки и ограничения
История · было → стало
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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
Аннотация
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).
RESULTS: Overall, 132 causative variants were identified in cohort members. More than half of the cases had hypotonia at birth or muscle weakness and a delayed motor development within the first 12 months of life (congenital myopathy) with causative variants located along the entire gene. The remaining patients had a distal or proximal phenotype and a childhood or later (noncongenital) onset. All noncongenital cases had at least one pathogenic variant in one of the final three TTN exons (362-364).
CONCLUSION: Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease.