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Novel ATP7A splice-site variant causing distal motor neuropathy and occipital horn syndrome: two siblings and literature review
Karin Writzl, Maruša Škrjanec Pušenjak, Matevž Jus, Aleš Maver, Nuška Pečarič-Meglič, Borut Peterlin, Lea Leonardis
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Oznake: ATP7A;splice-site variant;distal hereditary motor neuropathy;occipital horn syndrome;copper metabolism;neurogenetics;
Background: Pathogenic hemizygous variants in ATP7A most commonly cause Menkes disease or occipital horn syndrome (OHS), whereas ATP7A-related distal hereditary motor neuropathy (dHMN) is rarely reported. Here, we describe two adult brothers with an overlapping dHMN/OHS phenotype caused by a novel A ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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