MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes

MeSH terms

• Adult
• Aged
• Basal Ganglia Diseases / diagnosis
• Basal Ganglia Diseases / diagnostic imaging
• Basal Ganglia Diseases / genetics*
• Basal Ganglia Diseases / pathology
• Brain / diagnostic imaging*
• Brain / pathology
• Brain Diseases / diagnosis
• Brain Diseases / diagnostic imaging
• Brain Diseases / genetics*
• Brain Diseases / pathology
• Calcinosis / diagnosis
• Calcinosis / diagnostic imaging
• Calcinosis / genetics*
• Calcinosis / pathology
• Female
• Glycoside Hydrolases / genetics*
• Humans
• Middle Aged
• Mutation / genetics
• Neurodegenerative Diseases / diagnosis
• Neurodegenerative Diseases / diagnostic imaging
• Neurodegenerative Diseases / genetics*
• Neurodegenerative Diseases / pathology