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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myopathy
Comorbidity C0001125|lactic acidosis
Sentences 9
PubMedID- 21165651 Tissue-specific splicing of iscu results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of iscu results in early embryonic death in mice.
PubMedID- 22155317 Hereditary myopathy with lactic acidosis (hml) (omim #255125) presents in childhood with exercise intolerance and muscle pain on trivial exercise, lactic acidosis, dyspnoea, palpitations, and rhabdomyolysis which can be fatal.
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- 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- 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.
PubMedID- 24605570 [case report; mitochondrial encephalo-myopathy with lactic acidosis and stroke-like episodes (melas) diagnosed incidentally by asymptomatic cardiomegaly].
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].

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