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Article

AP4 deficiency

25 Jan 2018

Abstract excerpt

Objective To describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel AP4M1 pathogenic mutation. Methods The 3 patients from an inbred family who exhibited early-onset developmental delay, tetraparesis, juvenile motor function deterioration, and intellectual deficiency were investigated by magnetic brain imaging using T1-weighted, T2-weighted, T2*-weighted, fluid-attenuated inversion...

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PMID: 29473051
DOI: 10.1212/nxg.0000000000000217

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