The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
Grandis
Marina
M
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
Gulli
Rossella
R
Cassandrini
Denise
D
Gazzerro
Elisabetta
E
Benedetti
Luana
L
Narciso
Eleonora
E
Nobbio
Lucilla
L
Bruno
Claudio
C
Minetti
Carlo
C
Bellone
Emilia
E
Reni
Lizia
L
Mancardi
Giovanni Luigi
GL
Mandich
Paola
P
Schenone
Angelo
A
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
D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase