A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature

Keyphrases

• Late-onset 100%
• Systematic Literature Review 100%
• CMT2 100%
• HSPB1 100%
• HSPB1 Gene 66%
• Clinical Features 33%
• Family Members 33%
• Disease Pattern 33%
• Genotype-phenotype Correlation 33%
• Adult-onset 33%
• Electrophysiological Characteristics 33%
• Pathogenic mutations 33%
• Distal Hereditary Motor Neuropathy (dHMN) 33%
• Charcot-Marie-Tooth Disease 33%
• Male Predominance 33%
• Axonal Neuropathy 33%
• Plantar Flexors 33%
• Symmetric Distribution 33%

Medicine and Dentistry

• Genotype Phenotype Correlation 100%
• Systematic Review 100%
• Neuropathy 100%
• Case Presentation 100%
• Multifocal Motor Neuropathy 100%
• DeJerine-Sottas Disease 100%

Neuroscience

• Peripheral Neuropathy 100%
• Charcot-Marie-Tooth Disease 100%
• Distal Hereditary Motor Neuropathies 100%
• Plantar Flexors 100%