Keyphrases
Novel mutation
100%
Hereditary Myopathy
100%
Muscle Pathology
66%
Inflammation
33%
Genome Sequencing
33%
Young Women
33%
Clinical Presentation
33%
Early Adulthood
33%
Quadriceps
33%
Over 40
33%
Muscle Genes
33%
Lower Extremity Weakness
33%
Electrodiagnosis
33%
Bifunctional Enzyme
33%
Laboratory Evaluation
33%
Clinical Genetics
33%
Molecular Genetics
33%
Slowly Progressive
33%
Autosomal Recessive
33%
Protein Glycosylation
33%
Rimmed Vacuoles
33%
Genetic Findings
33%
Heterozygous mutation
33%
GNE Gene
33%
UDP-N-acetylglucosamine Pyrophosphorylase
33%
N-acetylglutamate Kinase
33%
Progressive Weakness
33%
Medicine and Dentistry
Myopathy
100%
Disease
66%
Weakness
66%
Phosphotransferase
33%
Electrodiagnosis
33%
Vacuolization
33%
Histopathology
33%
Autosomal Recessive Disorder
33%
Epimerase
33%
Muscle Disease
33%
Pharmacology, Toxicology and Pharmaceutical Science
Myopathy
100%
Disease
66%
Weakness
66%
Phosphotransferase
33%
Inflammation
33%
N Acetylglucosamine
33%
Uridine Diphosphate
33%
Epimerase
33%
Neuroscience
Muscle Disorder
100%
Kinase
33%
Electrodiagnosis
33%
Histopathology
33%
Uridine Diphosphate
33%
Protein Glycosylation
33%
Autosomal Recessive Disorder
33%
N Acetylglucosamine
33%
Epimerase
33%