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Article

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

American journal of medical genetics. Part A - 1 Jul 2014

Tüysüz Beyhan, Bilguvar Kaya, Koçer Naci, Yalçınkaya Cengiz, Çağlayan Okay, Gül Ece, Sahin Sezgin, Çomu Sinan, Günel Murat

Abstract excerpt

Adaptor protein complex-4 (AP4) is a component of intracellular transportation of proteins, which is thought to have a unique role in neurons. Recently, mutations affecting all four subunits of AP4 (AP4M1, AP4E1, AP4S1, and AP4B1) have been found to cause similar autosomal recessive phenotype consisting of tetraplegic cerebral palsy and intellectual disability. The aim of this study was analyzing AP4 genes in...

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PMID: 24700674
DOI: 10.1002/ajmg.a.36514

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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