Article
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
Journal of neurology - 1 Sept 2020
Panadés-de Oliveira Luísa, Bermejo-Guerrero Laura, de Fuenmayor-Fernández de la Hoz Carlos Pablo, Cantero Montenegro Diana, Hernández Lain Aurelio, Martí Pilar, Muelas Nuria, Vilchez Juan J, Domínguez-González Cristina
Abstract excerpt
BACKGROUND: The ANO5 gene encodes for anoctamin-5, a chloride channel involved in muscle cell membrane repair. Recessive mutations in ANO5 are associated with muscular diseases termed anoctaminopathies, which are characterized by proximal or distal weakness, or isolated hyperCKemia. We present the largest series of patients with asymptomatic/paucisymptomatic anoctaminopathy reported so far, highlighting their...
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