Article
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.
Journal of neurology - 1 May 2023
Cinarli Yuksel Feride, Nicolaou Paschalis, Spontarelli Kerri, Dohrn Maike F, Rebelo Adriana P, Koutsou Pantelitsa, Georghiou Anthi, Artigas Pablo, Züchner Stephan L, Kleopa Kleopas A, Christodoulou Kyproula
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a genetically and clinically heterogeneous group of inherited neuropathies. Monoallelic pathogenic variants in ATP1A1 were associated with axonal and intermediate CMT. ATP1A1 encodes for the catalytic α1 subunit of the Na+/ K+ ATPase. Besides neuropathy, other associated phenotypes are spastic paraplegia, intellectual disability, and renal hypomagnesemia. We hereby...
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