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

Roberta Biancheri, Enrico Bertini, Antonio Falace, Marina Pedemonte, Andrea Rossi, Adele D'Amico, Sara Scapolan, Laura Bergamino, Stefania Petrini, Denise Cassandrini, Paolo Broda, Mario Manfredi, Federico Zara, Filippo M. Santorelli, Carlo Minetti, Claudio Bruno

Research output: Contribution to journalArticle


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 α-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.

Original languageEnglish
Pages (from-to)1491-1495
Number of pages5
JournalArchives of Neurology
Issue number10
Publication statusPublished - 2006


ASJC Scopus subject areas

  • Neuroscience(all)

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