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Arch Neurol. 2006 Oct;63(10):1491-5.

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Author information

1
Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy. roberta@biancheri.com

Abstract

BACKGROUND:

Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations.

OBJECTIVE:

To describe the clinical and molecular features of 3 Italian patients with POMGnT1 mutations.

DESIGN:

Case reports.

PATIENTS:

One patient had muscle and brain abnormalities without eye involvement. Two patients had a classic muscle-eye-brain disease phenotype with different levels of clinical severity.

RESULTS:

Brain magnetic resonance imaging showed cortical malformation and posterior fossa involvement. Immunofluorescence for glycosylated alpha-dystroglycan performed on muscle biopsy specimens demonstrated an absent signal in 1 patient and reduced staining in 2 patients. Molecular analysis identified 5 mutations, 2 of which are novel.

CONCLUSION:

This article adds to what is known about the genotype-phenotype correlation and expands our awareness of the clinical spectrum associated with POMGnT1 mutations.

PMID:
17030669
DOI:
10.1001/archneur.63.10.1491
[Indexed for MEDLINE]

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