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Article

Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature.

Neuromuscular disorders : NMD - 1 Aug 2017

Hedberg-Oldfors Carola, Darin Niklas, Oldfors Anders

Abstract excerpt

Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which encodes a protein involved in the autophagy pathway. Although myopathy is part of the syndrome, few publications have described the muscle pathology. We present...

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Identifiers

PMID: 28624465
DOI: 10.1016/j.nmd.2017.05.005

Genes

EPG5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature.PMID 28624465Read ↗

Vici syndrome: a review.Semantic proximity Read ↗

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.Semantic proximity Read ↗

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Semantic proximity Read ↗

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.Semantic proximity Read ↗

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.Semantic proximity Read ↗

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.Semantic proximity Read ↗

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of <i>EPG5</i> and review of the literatureSemantic proximity Read ↗

Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.Semantic proximity Read ↗

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.Semantic proximity Read ↗

Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.Semantic proximity Read ↗

Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disordersSemantic proximity Read ↗

An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene.Semantic proximity Read ↗

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