Article
Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.
International journal of environmental research and public health - 11 Jan 2022
Winczewska-Wiktor Anna, Hirschfeld Adam Sebastian, Badura-Stronka Magdalena, Wojsyk-Banaszak Irena, Sobkowiak Paulina, Bartkowska-Śniatkowska Alicja, Babak Valeriia, Steinborn Barbara
Abstract excerpt
NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. We present a patient in whom congenital myasthenic syndrome (CMS) was suspected due to the occurrence of...
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