Article
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
Journal of medical genetics - 1 Nov 2022
Mroczek Magdalena, Longman Cheryl, Farrugia Maria Elena, Kapetanovic Garcia Solange, Ardicli Didem, Topaloglu Haluk, Hernández-Laín Aurelio, Orhan Diclehan, Alikasifoglu Mehmet, Duff Jennifer, Specht Sabine, Nowak Kristen, Ravenscroft Gianina, Chao Katherine, Valivullah Zaheer, Donkervoort Sandra, Saade Dimah, Bönnemann Carsten, Straub Volker, Yoon Grace
Abstract excerpt
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 proximal muscle weakness with survival into adulthood. OBJECTIVE: We report eight patients from four unrelated families with biallelic pathogenic...
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