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: Meyer, A. P., Barnett, C. L., Myers, K., Siskind, C. E., Moscarello, T., Logan, R., Roggenbuck, J., Rich, K. A. Tags: Genotype-phenotype correlations Source Type: research
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