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:C0011168 (
dysphagia
)
15,644
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Oculopharyngeal muscular dystrophy is a rare disease, presenting with bilateral ptosis and
dysphagia
, followed by slow progressive muscle weakness. The pathological hallmark of the disease is the presence of intranuclear inclusions in muscle cells. Inheritance is autosomal dominant in almost all cases. The mutation responsible is a short guanine-cytosine-guanine (GCG) expansion in the 'poly
adenylate
binding nuclear I protein' (PABN1) gene. This expansion is stable in subsequent generations and is translated into a polyalanine tract. The aberrant protein is found within the intranuclear inclusions and interferes with normal mRNA function.
...
PMID:[From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy]. 1675 25
