Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study

Conclusion Our cohort demonstrates the genotype–phenotype spectrum of paediatric-onset titinopathies identified in clinical practice and highlights the risk of life-threatening cardiovascular complications. We show the difficulties of obtaining a molecular diagnosis, particularly in neuromuscular patients, and bring awareness to the complexities of genetic counselling in this population.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Genotype-phenotype correlations Source Type: research