Abstract
Background POMT2 mutations have been identified in Walker-Warburg syndrome or muscle-eye-brain-like, but rarely in limb girdle muscular dystrophy (LGMD). Results Two POMT2 mutations, one null and one missense, were found in a patient with LGMD and mild mental impairment, no brain or ocular involvement, minor histopathological features, and slight reduction of α-dystroglycan (α-DG) glycosylation and α-DG laminin binding. Conclusions Our case, the fourth LGMD POMT2-mutated reported to date, provides further evidence of correlation between level of α-DG glycosylation and phenotype severity.
Original language | English |
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Pages (from-to) | 404-408 |
Number of pages | 5 |
Journal | European Journal of Paediatric Neurology |
Volume | 18 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2014 |
Keywords
- Congenital muscular dystrophy
- Limb girdle muscular dystrophy
- POMT2
- α-Dystroglycan glycosylation
- α-Dystroglycanopathy
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Medicine(all)