Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1

Keyphrases

• Whole Exome Sequencing 100%
• Disease Pattern 100%
• Causative mutation 100%
• Homozygous Frameshift mutation 100%
• Charcot-Marie-Tooth Disease 100%
• Charcot-Marie-Tooth 100%
• MTMR2 100%
• Ashkenazi Jews 66%
• Amino Acids 33%
• Heterogeneous Groups 33%
• Genomic DNA (gDNA) 33%
• Neuropathy 33%
• Leukocytes 33%
• Illumina 33%
• Genetic Causes 33%
• Clinical Features 33%
• Heterozygote 33%
• Affected Family Members 33%
• Gene mutation 33%
• Atrophy 33%
• Motor Dysfunction 33%
• Terminal Extension 33%
• Lower Limb muscles 33%
• Co-segregation 33%
• Axonal Polyneuropathy 33%
• Pes Cavus 33%
• Tooth Type 33%
• Novel Frameshift mutation 33%
• Whole Blood 33%
• Terminal Sequence 33%
• Demyelinating Polyneuropathy 33%
• Cavus Foot Deformity 33%
• Myotubularin-related Proteins 33%
• DNA Sequence Analysis 33%
• Sensory Dysfunction 33%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Frameshift Mutation 100%
• MTMR2 100%
• Amino Acids 33%
• Genetics 33%
• Prevalence 33%
• Gene Mutation 33%
• DNA Sequence 33%
• Leukocyte 33%
• Normal Human 33%
• C-Terminus 33%
• Myotubularin 33%
• Genomics 33%

Immunology and Microbiology

• Frameshift Mutation 100%
• Teeth 100%
• Whole Exome Sequencing 100%
• Prevalence 20%
• Gene Mutation 20%
• Leukocyte 20%
• DNA Sequence 20%
• Foot 20%
• Normal Human 20%
• Carboxy Terminal Sequence 20%
• Amino Acid 20%
• Muscle 20%