Articles with "variants fxr1" as a keyword



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

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Published in 2022 at "Journal of Medical Genetics"

DOI: 10.1136/jmedgenet-2021-108341

Abstract: Background Biallelic pathogenic variants in FXR1 have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a milder form characterised by… read more here.

Keywords: congenital myopathy; variants fxr1; fxr1 related; muscle ... See more keywords