Myopathy, Lactic acidosis, and Sideroblastic Anemia 2
MLASA2

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Prevalence (%) of clinical parameters based on data from 1 references describing 3 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Anemia circulatory 100 % 20598274 2011-10-19
Lactate accumulation circulatory 100 % 20598274 2011-10-19
Myopathy skeletal 100 % 20598274 2011-10-19
Exercise intolerance skeletal 100 % 20598274 2011-10-19
Muscle weakness skeletal 100 % 20598274 2011-10-19
Pallor circulatory 67 % 20598274 2011-10-19
Dysphagia digestive 67 % 20598274 2011-10-19
Short stature skeletal 67 % 20598274 2011-10-19
Weight loss multi 67 % 20598274 2011-10-19
Cardiomyopathy circulatory 33 % 20598274 2011-10-19
Lethargy circulatory 33 % 20598274 2011-10-19
Failure to thrive multi 33 % 20598274 2011-10-19
Developmental delay nervous 33 % 20598274 2011-10-19



List of references:


Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Lisa G Riley, Sandra Cooper, Peter Hickey, Joëlle Rudinger-Thirion, Matthew McKenzie, Alison Compton, Sze Chern Lim, David Thorburn, Michael T Ryan, Richard Giegé, Melanie Bahlo, John Christodoulou,



American journal of human genetics - Jul 2010