Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2

Medicine and Dentistry

• Neuropathy 100%
• DeJerine-Sottas Disease 50%
• Sural Nerve 50%
• Nerve Biopsy 50%
• Gene Linkage 50%
• Exome Sequencing 50%
• Disease 25%
• Clinical Feature 25%
• Thenar 25%
• Linkage Analysis 25%
• Autosomal Dominant Inheritance 25%
• Muscle Atrophy 25%
• Exome 25%

Neuroscience

• Charcot-Marie-Tooth Disease 100%
• Sural Nerve 100%
• Exome Sequencing 100%
• Neuropathy 100%
• Pyramidal Tract 50%
• Muscle Atrophy 50%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Gene Linkage 100%
• Exome 50%
• Linkage Analysis 50%
• Autosomal Dominant Inheritance 50%