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: EC:3.5.4.17 (
adenosine deaminase
)
5,206
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number.
Thymidine kinase
2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in
TK2
gene have been described so far. We describe the case of a 14months boy with the aforementioned
TK2
gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of
adenylate deaminase
deficiency. Overall, this report serves to further expand the clinical spectrum of
TK2
mutations associated with MDDS.
...
PMID:Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in
TK2
gene. 3290 81
