An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
Broccolini
A
A
Institute of Neurology, Catholic University, Rome, Italy. abroccolini@tiscali.it
Pescatori
M
M
D'Amico
A
A
Sabino
A
A
Silvestri
G
G
Ricci
E
E
Servidei
S
S
Tonali
P A
PA
Mirabella
M
M
D002238:Carbohydrate Epimerases / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D029968:Escherichia coli Proteins; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007558:Italy; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation / Q000235:genetics* / Q000502:physiology; D018979:Myositis, Inclusion Body / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction
D029968:Escherichia coli Proteins; D002238:Carbohydrate Epimerases; C100033:UDP acetylglucosamine-2-epimerase; C083982:wecB protein, E coli