Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

Medicine & Life Sciences

• Nonaka type Distal myopathy 100%
• Somatotypes 38%
• Mutation 32%
• RNA Splice Sites 24%
• Muscular Diseases 20%
• Inclusion body myopathy autosomal recessive 19%
• Biopsy 11%
• Genes 11%
• Muscle Weakness 10%
• Vacuoles 10%
• Missense Mutation 10%
• Genetic Testing 9%
• Reverse Transcriptase Polymerase Chain Reaction 9%
• Protein Domains 9%
• Fathers 9%
• Introns 9%
• Sequence Analysis 9%
• Siblings 8%
• Exons 8%
• Phosphotransferases 7%
• Amino Acids 6%
• Muscles 5%