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