[An advanced case of myopathy and dementia with a new mutation in the valosin-containing protein gene].

Abstract excerpt

We report a 51-year-old man with myopathy and dementia probably caused by a novel mutation of the valosin-containing protein (VCP) gene, in the form of a p.Ala439Pro substitution. At 43 years old, he presented at least 2-year history of weakness of right ankle dorsiflexion. Findings from muscle biopsy suggested distal myopathy with rimmed vacuoles. However, no mutation in the GNE gene was identified. He...

Topics

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

• Share to Adenosine Triphosphatases
• Share to Cell Cycle Proteins