PedAM
Pediatric Disease Annotations & Medicines
| Disease | lactic acidosis |
| Phenotype | C0026848|myopathy |
| Sentences | 10 |
| PubMedID- 21165651 | Hereditary myopathy with lactic acidosis (hml) is caused by an intron mutation in the iron-sulphur cluster assembly gene (iscu) leading to incorporation of intron sequence into the mrna. |
| PubMedID- 22146674 | Hew: hydrogen-enriched water; pmd: progressive muscular dystrophy; pm: polymyositis; dm: dermatomyositis; mm: mitochondrial myopathies; cpeo: chronic progressive external ophthalmoplegia; melas: mitochondrial myopathy with lactic acidosis and stroke-like episodes; mmp3: matrix metalloproteinase-3. |
| PubMedID- 24082934 | In our patient, use of sodium valproate for seizures lead to an aggravation of seizures, and precipitation of a myopathy associated with lactic acidosis and hepatic dysfunction. |
| PubMedID- 23204983 | It has been reported the case of a teenager in which mitochondrial myopathy with severe lactic acidosis had presented following mononucleosis and minocycline use [41]. |
| PubMedID- 20206689 | Hereditary myopathy with lactic acidosis, or myopathy with exercise intolerance, swedish type (omim #255125) is caused by mutations in the iron-sulfur cluster scaffold (iscu) gene. |
| PubMedID- 25681081 | Pathologic variants of the mitochondrial phosphate carrier slc25a3: two new patients and expansion of the cardiomyopathy/skeletal myopathy phenotype with and without lactic acidosis. |
| PubMedID- 22155317 | Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. |
| PubMedID- 24605570 | [case report; mitochondrial encephalo-myopathy with lactic acidosis and stroke-like episodes (melas) diagnosed incidentally by asymptomatic cardiomegaly]. |
| PubMedID- 22125086 | Hereditary myopathy with lactic acidosis (hml) is caused by an intron mutation in the iron-sulfur cluster assembly gene iscu, which leads to the activation of cryptic splice sites and the retention of part of intron 4. |
| PubMedID- 22504945 | A novel mutation in yars2 causes myopathy with lactic acidosis and sideroblastic anemia. |
Page: 1