Article
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Archives of neurology - 1 Oct 2006
Biancheri Roberta, Bertini Enrico, Falace Antonio, Pedemonte Marina, Rossi Andrea, D'Amico Adele, Scapolan Sara, Bergamino Laura, Petrini Stefania, Cassandrini Denise, Broda Paolo, Manfredi Mario, Zara Federico, Santorelli Filippo M, Minetti Carlo, Bruno Claudio
Abstract excerpt
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...
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