Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis.
Kinji
K
Ohno
D002238:Carbohydrate Epimerases / Q000235:genetics; D004252:DNA Mutational Analysis; D049310:Distal Myopathies / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics* / Q000502:physiology*; D019158:N-Acetylneuraminic Acid / Q000096:biosynthesis*
D002238:Carbohydrate Epimerases; C100033:UDP acetylglucosamine-2-epimerase; D019158:N-Acetylneuraminic Acid
Muscle Disease; Myopathy