TY - JOUR
T1 - POMGnT1 mutations in congenital muscular dystrophy
T2 - Genotype-phenotype correlation and expanded clinical spectrum
AU - Biancheri, Roberta
AU - Bertini, Enrico
AU - Falace, Antonio
AU - Pedemonte, Marina
AU - Rossi, Andrea
AU - D'Amico, Adele
AU - Scapolan, Sara
AU - Bergamino, Laura
AU - Petrini, Stefania
AU - Cassandrini, Denise
AU - Broda, Paolo
AU - Manfredi, Mario
AU - Zara, Federico
AU - Santorelli, Filippo M.
AU - Minetti, Carlo
AU - Bruno, Claudio
PY - 2006
Y1 - 2006
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=33749596532&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33749596532&partnerID=8YFLogxK
U2 - 10.1001/archneur.63.10.1491
DO - 10.1001/archneur.63.10.1491
M3 - Article
C2 - 17030669
AN - SCOPUS:33749596532
VL - 63
SP - 1491
EP - 1495
JO - Archives of Neurology
JF - Archives of Neurology
SN - 0003-9942
IS - 10
ER -