Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy

Biochemistry, Genetics and Molecular Biology

• Gene Mutation 100%
• GNE (Gene) 100%
• Kinase 66%
• Phenotype 66%
• Protein 33%
• Mutation 33%
• N-Acetylglucosamine 33%
• Genetic Trait 33%
• 2-Epimerase 33%
• Modifier Gene 33%
• N-Acetylmannosamine 33%

Neuroscience

• Muscle Disorder 100%
• Gene Mutation 42%
• Phenotype 28%
• Kinase 28%
• Epimerase 28%
• Protein 14%
• N Acetylglucosamine 14%
• Modifier Gene 14%
• Uridine Diphosphate 14%