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