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Article

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.

Human molecular genetics - 15 May 2011

Yıldırım Yeşerin, Orhan Elif Kocasoy, Iseri Sibel Aylin Ugur, Serdaroglu-Oflazer Piraye, Kara Bülent, Solakoğlu Seyhun, Tolun Aslıhan

Abstract excerpt

We present a family afflicted with a novel autosomal recessive disease characterized by progressive intellectual disability, motor dysfunction and multiple joint contractures. No pathology was found by cranial imaging, electromyography and muscle biopsy, but electron microscopy in leukocytes revealed large vacuoles containing flocculent material. We mapped the disease gene by SNP genome scan and linkage analysis...

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Source

Identifiers

PMID: 21330303
DOI: 10.1093/hmg/ddr070

Genes

ERLIN2

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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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