Overlapping Diseases in a Brazilian Subject with Brain Calcification Linked to Novel Phenotypes.

Abstract excerpt

Primary familial brain calcification (PFBC) is a well-known genetic condition that has recently had a surge of autosomal recessive cases. We recently reported a case of autosomal recessive PFBC on a 54-year-old Brazilian patient with a novel homozygous variant on MYORG. Interestingly, that patient also had a series of uncommon signs and symptoms, including Hashimoto's thyroiditis, polyneuropathy, optic nerve head...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Brain
• Share to Brain Diseases
• Share to Brazil