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:C0019158 (
hepatitis
)
30,205
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We describe the case of a Sardinian female child affected by
SMARD1
, a genetic composite heterozygote, in whom a new nonsense mutation (R788X) was found. A sister was affected by generalized muscular hypotonia and died from respiratory insufficiency at the age of 9 months, before a diagnostic definition had been formulated. Our patient died at 6 months due to respiratory insufficiency. At autopsy some differences with previous published cases were observed. In fact, our case is to the best of our knowledge the first report of giant cell
hepatitis
and myocarditis in
SMARD1
-affected patients, although this could be a chance association.
...
PMID:A new nonsense mutation of the IGHMBP2 gene responsible for the first case of SMARD1 in a Sardinian patient with giant cell hepatitis. 2085 32
