title: The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
authors.affiliation: Section of Neurology and Neurological Rehabilitation, Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Via de Toni 5, 16132, Genoa, Italy. mgrandis@neurologia.unige.it
authors.forename: Marina
authors.initials: M
authors.lastname: Grandis
authors.forename: Rossella
authors.initials: R
authors.lastname: Gulli
authors.forename: Denise
authors.initials: D
authors.lastname: Cassandrini
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Gazzerro
authors.forename: Luana
authors.initials: L
authors.lastname: Benedetti
authors.forename: Eleonora
authors.initials: E
authors.lastname: Narciso
authors.forename: Lucilla
authors.initials: L
authors.lastname: Nobbio
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
authors.forename: Emilia
authors.initials: E
authors.lastname: Bellone
authors.forename: Lizia
authors.initials: L
authors.lastname: Reni
authors.forename: Giovanni Luigi
authors.initials: GL
authors.lastname: Mancardi
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
authors.forename: Angelo
authors.initials: A
authors.lastname: Schenone
mesh_terms: D000328:Adult; D000483:Alleles; D018450:Disease Progression; D004534:Egypt; D005260:Female; D006801:Humans; D007514:Islam; D007558:Italy; D008297:Male; D009097:Multienzyme Complexes / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense; D018979:Myositis, Inclusion Body / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D055815:Young Adult
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase