Multi-system neurological disorder associated with a CRYAB variant

Keyphrases

• Neurological Disorders 100%
• Multisystem 100%
• CRYAB 100%
• Whole Exome Sequencing 66%
• Proteomic Analysis 66%
• Laser Capture Microdissection 66%
• Muscle Biopsy 66%
• Mass Spectrometry Analysis 66%
• Cognitive Impairment 33%
• Heat Shock Proteins 33%
• Electron Microscopy 33%
• Extension Domains 33%
• Phenotypic Spectrum 33%
• Central Nervous System 33%
• Affected Siblings 33%
• Chaperone 33%
• Cardiomyopathy 33%
• Cerebellar Ataxia 33%
• C-terminal Extension 33%
• Molecular Chaperone 33%
• Protein Aggregation 33%
• Histochemical Staining 33%
• Trichrome Stain 33%
• Optic Atrophy 33%
• Neurological Phenotype 33%
• Multiplex Families 33%
• Molecular Findings 33%
• Myopathy 33%
• HE Staining 33%
• Subsarcolemmal 33%
• Early-onset Cataract 33%
• Alpha-crystallin B Chain 33%
• Crystallinopathy 33%
• Congo Red Stain 33%

Neuroscience

• Staining Technique 100%
• Exome Sequencing 100%
• Nervous System Disorder 100%
• Proteomics 100%
• Mass Spectrometry 100%
• Chaperone 100%
• Cognitive Disorders 50%
• Central Nervous System 50%
• C-Terminus 50%
• Monomer 50%
• Protein Aggregation 50%
• Electron Microscopy 50%
• Ataxia 50%
• Amyloid Protein 50%
• Heat Shock Protein 50%
• Muscle Disorder 50%
• Cataract 50%
• Alpha Crystallin 50%
• Myocardial Disease 50%

Biochemistry, Genetics and Molecular Biology

• CRYAB 100%
• Exome Sequencing 66%
• Mass Spectrometry 66%
• Laser Microdissection 66%
• Proteomics 66%
• Heat Shock Protein 33%
• Electron Microscopy 33%
• C-Terminus 33%
• Protein Aggregation 33%
• Congo Red 33%
• Amyloid Protein 33%
• Chaperone Protein 33%
• Crystallin 33%