Article
Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 15 Sept 2017
Viprey Mathilde, Trang Ha, Pomedio Michaël, Bessaci-Kabouya Katia, Sabouraud Pascal, Cheliout-Heraut Fawzia, Mauran Pierre
Abstract excerpt
ABSTRACT: Selenoprotein-related myopathy (SEPN1-RM) is a rare disease with a variable clinical presentation. The selenoprotein N1 gene (SEPN1) mutation causing this congenital muscular dystrophy was identified in 2001. Sleep-disordered breathing (SDB) may occur in young patients with SEPN1-RM who are still able to walk. We report the cases of two children with SEPN1-RM who presented with SDB at the ages of 7 and...
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