A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

Biochemistry, Genetics and Molecular Biology

• Autosomal Dominant Inheritance 100%
• Exome Sequencing 100%
• Founder Effect 100%
• Electron Microscopy 50%
• Morphology 50%
• Consanguinity 50%
• Haplotype 50%
• Missense Mutation 50%
• Sanger Sequencing 50%
• Immunocytochemistry 50%
• Biochemistry 50%
• Linkage Analysis 50%
• Microsatellite Marker 50%

Neuroscience

• Protein Aggregate 100%
• Muscle Disorder 100%
• Exome Sequencing 33%
• Cell Line 16%
• Electron Microscopy 16%
• Protein 16%
• Missense Mutation 16%
• Immunocytochemistry 16%
• Sanger Sequencing 16%
• Haplotype 16%
• Microsatellite 16%

Keyphrases

• CASQ1 100%
• HyperCKaemia 100%
• Heterozygous Missense mutation 20%
• Morphological Investigation 20%
• Italian Patients 20%
• Vacuolar Myopathy 20%