FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Conclusion FXR1-related congenital myopathy is an emerging entity that is clinically recognisable. Phenotypic variability associated with variants in FXR1 can result from differences in variant location and type and is also observed between patients homozygous for the same variant, rendering specific genotype–phenotype correlations difficult. Our work broadens the phenotypic spectrum of FXR1-related congenital myopathy.

http://jmg.bmj.com/cgi/content/short/59/11/1069?rss=1

Source: Journal of Medical Genetics - October 21, 2022 Category: Genetics & Stem Cells Authors: Mroczek, M., Longman, C., Farrugia, M. E., Kapetanovic Garcia, S., Ardicli, D., Topaloglu, H., Hernandez-Lain, A., Orhan, D., Alikasifoglu, M., Duff, J., Specht, S., Nowak, K., Ravenscroft, G., Chao, K., Valivullah, Z., Donkervoort, S., Saade, D., Bo Tags: Neurogenetics Source Type: research