title: POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
abstract: Defects in glycosylation of alpha-dystroglycan are associated with several forms of muscular dystrophies. Mutations in POMT2 gene have been identified in patients with congenital muscular dystrophy and brain involvement, either characterized by a Walker-Warburg/muscle-eye-brain phenotype, or by microcephaly, mental retardation, and cerebellar hypoplasia. We identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement. Muscle biopsy revealed myopathic and inflammatory changes and severe alpha-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.
authors.affiliation: Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Largo Gaslini 5, 16147 Genova, Italy. roberta@biancheri.com
authors.forename: Roberta
authors.initials: R
authors.lastname: Biancheri
authors.forename: Antonio
authors.initials: A
authors.lastname: Falace
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Marina
authors.initials: M
authors.lastname: Pedemonte
authors.forename: Sara
authors.initials: S
authors.lastname: Scapolan
authors.forename: Denise
authors.initials: D
authors.lastname: Cassandrini
authors.forename: Chiara
authors.initials: C
authors.lastname: Aiello
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Paolo
authors.initials: P
authors.lastname: Broda
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Filippo Maria
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
mesh_terms: D001483:Base Sequence; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007249:Inflammation / Q000150:complications / Q000235:genetics / Q000378:metabolism; D008364:Mannosyltransferases / Q000235:genetics* / Q000378:metabolism*; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D009154:Mutation / Q000235:genetics
chemical_list: D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase