Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0013362 (
dysarthria
)
3,768
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mutations in
valosin-containing protein
(
VCP
) are associated with a syndromic constellation of inclusion body myositis, Paget's disease of bone and frontotemporal dementia. Here we describe the case reports of two patients with a novel variation (p.I27V) in the
VCP
gene that was not identified in a healthy control population. One patient presented with a frontotemporal dementia syndrome associated with raised serum alkaline phosphatase and a family history of progressive muscle disease and behavioural decline, while the second patient presented with isolated progressive
dysarthria
. Together these cases suggest a potential for the same
VCP
mutation to produce distinct patterns of brain damage, underlining the clinical heterogeneity of
VCP
-associated disease.
...
PMID:A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes. 2138 14
