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Journal Article
Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 915 - 926
ABSTRACT The GNE gene encodes the rate‐limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate‐N‐acetylglucosamine... 
distal myopathy with rimmed vacuoles | hereditary inclusion body myopathy | DMRV | HIBM | adult onset muscular dystrophy | GNE | Adult onset muscular dystrophy | Hereditary inclusion body myopathy | Distal myopathy with rimmed vacuoles | RIMMED VACUOLES DMRV | BIFUNCTIONAL ENZYME | GLCNAC 2-EPIMERASE/MANNAC KINASE | DISTAL MYOPATHY | INCLUSION-BODY MYOPATHY | ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | SIALIC-ACID BIOSYNTHESIS | GENETICS & HEREDITY | KEY ENZYME | HETEROZYGOUS MUTATIONS | N-ACETYLNEURAMINIC ACID | Gene Expression | Exons | Introns | Distal Myopathies - pathology | Gene Frequency | Humans | Sialic Acids - metabolism | Databases, Genetic | European Continental Ancestry Group | Muscle, Skeletal - metabolism | Multienzyme Complexes - genetics | Genetic Heterogeneity | Multienzyme Complexes - chemistry | Exome | Asian Continental Ancestry Group | Distal Myopathies - genetics | Distal Myopathies - physiopathology | Muscle, Skeletal - physiopathology | Alleles | Muscle, Skeletal - pathology | Mutation | Distal Myopathies - ethnology | Enzymes | Analysis | Genes | Genomics | Therapeutics | Physiological aspects | Genetic aspects | Population genetics | Organic acids | Homeopathy | Materia medica and therapeutics | Kinases | GNE myopathy | N-acetylmannosamine (ManNAc) | sialic acid | hereditary inclusion body myopathy (HIBM) | disease prevalence | distal myopathy with rimmed vacuoles (DMRV)
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 10, pp. 2670 - 2679
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