title: POMT2 mutation in a patient with 'MEB-like' phenotype.
abstract: Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity.
authors.affiliation: Eugenio Mercuri Department of Paediatric Neurology, Child Neurology Unit, Catholic University, Rome, Italy. e.mercuir@imperial.ac.uk
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: A
authors.initials: A
authors.lastname: D'Amico
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: A
authors.initials: A
authors.lastname: Berardinelli
authors.forename: M
authors.initials: M
authors.lastname: Pane
authors.forename: S
authors.initials: S
authors.lastname: Messina
authors.forename: J
authors.initials: J
authors.lastname: van Reeuwijk
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000595:Amino Acid Sequence; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D006984:Hypertrophy; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008364:Mannosyltransferases / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D017354:Point Mutation
chemical_list: D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase