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Article

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Journal of neuromuscular diseases - 1 Jan 2022

Oliwa Agata, Joseph Shuko, Millar Eoghan, Horrocks Iain, Penman Dawn, Baptista Julia, Cullup Thomas, Constantinou Panayiotis, Heuchan Anne-Marie, Hamilton Ruth, Longman Cheryl

Abstract excerpt

This case report describes a girl who presented antenatal arthrogryposis and postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting the lower limbs and poor swallow. By 5 months, cataracts, abnormal electroretinograms, visual evoked potentials (VEPs) and global developmental impairments were recognized. No causative variants were identified on targeted gene panels....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 36057830
DOI: 10.3233/JND-220818

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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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