Article
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected.
Neurology - 25 Feb 2020
De Ridder Willem, Azmi Abdelkrim, Clemen Christoph S, Eichinger Ludwig, Hofmann Andreas, Schröder Rolf, Johnson Katherine, Töpf Ana, Straub Volker, De Jonghe Peter, Maudsley Stuart, De Bleecker Jan L, Baets Jonathan
Abstract excerpt
OBJECTIVE: To assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the heterozygous state. METHODS: We studied a 36-year-old male index patient and his father, both presenting with progressive limb-girdle weakness. Muscle involvement was...
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