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Article

High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.

European journal of ophthalmology - 1 Jan 2000

Morava E, Willemsen M A, Wopereis S, Ter Laak H, Lefeber D, Wevers R A, Cruysberg J R M

Abstract excerpt

PURPOSE: Several types of inborn errors of the O-glycan biosynthesis are known, leading to clinically very distinct phenotypes. Children with O-mannosyl glycan biosynthesis defects commonly present as a severe form of congenital muscular dystrophy with decreased alpha-dystroglycan staining, congenital eye anomalies, and brain migration defects. Alpha-dystroglycan is an O-mannosylated glycoprotein with additional...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16496270
DOI: 10.1177/112067210601600134

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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