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Article

Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

Pediatric neurology - 1 May 2014

Yiş Uluç, Uyanik Gökhan, Rosendahl Deborah Morris, Carman Kürşat Bora, Bayram Erhan, Heise Marisol, Cömertpay Gamze, Kurul Semra Hız

Abstract excerpt

BACKGROUND: To evaluate clinical, genetic, and radiologic features of our patients with muscle-eye-brain disease. METHODS: The data of patients who were diagnosed with muscle-eye-brain disease from a cohort of patients with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylül University School of Medicine and Gaziantep Children's Hospital between 2005 and 2013 were analyzed...

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Source

Identifiers

PMID: 24731844
DOI: 10.1016/j.pediatrneurol.2014.01.008

Genes

POMGNT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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