Article
[Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy].
Fortschritte der Neurologie-Psychiatrie - 1 Jul 2018
Mengel David, Librizzi Damiano, Schoser Benedikt, Gläser Dieter, Clemen Christoph S, Dodel Richard, Schröder Rolf
Abstract excerpt
Mutations of the human VCP gene, which encodes the V: alosin C: ontaining P: rotein (synonyms: p97, TER ATPase), are associated with various multi-systemic protein aggregation diseases. We report on a patient with progressive myopathy and incipient cognitive deficits. A diagnostic muscle biopsy revealed an inclusion body myopathy with protein aggregates. Magnetic resonance imaging and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
