A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

Keyphrases

• Hereditary Spastic Paraplegia 100%
• HSPD1 100%
• Novel mutation 100%
• Heat Shock Protein 60 (HSP60) 75%
• Autosomal Dominant 25%
• Missense mutation 25%
• Low Penetrance 25%
• Quality Control 25%
• Mitochondrial Proteins 25%
• Index Patient 25%
• Molecular Chaperone 25%

Biochemistry, Genetics and Molecular Biology

• Heat Shock Protein 100%
• Allele 33%
• Autosomal Dominant Inheritance 33%
• Penetrance 33%
• Missense Mutation 33%
• Mitochondrial Protein 33%
• Quality Control 33%

Neuroscience

• Hereditary Spastic Paraplegia 100%
• Chaperonin 60 100%
• Missense Mutation 14%
• Paraplegia 14%
• Mitochondrial Protein 14%
• Chaperone 14%