POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum |
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Authors: | 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 |
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Affiliation: | Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy. roberta@biancheri.com |
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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. |
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