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Article

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.

European journal of human genetics : EJHG - 1 Mar 2018

Castiglioni Claudia, Fattori Fabiana, Udd Bjarne, de Los Angeles Avaria Maria, Suarez Bernardita, D'Amico Adele, Malandrini Alessandro, Carrozzo Rosalba, Verrigni Daniela, Bertini Enrico, Tasca Giorgio

Abstract excerpt

We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma and swallowing difficulties. Electrophysiology and nerve biopsies showed a mixed axonal and demyelinating neuropathy, while muscle biopsy disclosed both neurogenic and myopathic changes with ragged red fibers, and muscle MRI showed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29358615
DOI: 10.1038/s41431-017-0003-4
PMCID: PMC5839054

Genes

POLG

Provenance

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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