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



100
Anemia
100
Exercise intolerance
100
Lactate accumulation
100
Muscle weakness
100
Myopathy
67
Dysphagia
67
Pallor
67
Short stature
67
Weight loss
33
Cardiomyopathy
33
Developmental delay
33
Failure to thrive
33
Lethargy




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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