Phenotypic convergence of Menkes and Wilson disease

Abstract excerpt

Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A . Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.1,2 About 5%–10% of the patients present with “atypical Menkes disease” characterized by longer survival, cerebellar ataxia, and developmental...

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