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GENATLAS PHENOTYPE

last update : 22-09-2015

Symbol	MLASA2
Location	12p11.21
Name	myopathy, lactic acidosis, and sideroblastic anemia 2
Other name(s)	mitochondrial myopathy and sideroblastic anemia 2
Corresponding gene	YARS2
Main clinical features	oxidative phosphorylation disorder with myopathy, sideroblastic anemia, lactic acidosis, mental retardation, microcephaly, high palate, high philtrum, distichiasis, and micrognathia muscle biopsy demonstrated low activity of complex I, III, and IV of the respiratory chain; electron microscopy revealed paracrystalline inclusions in most mitochondria
Genetic determination	autosomal recessive
Function/system disorder	multisystem/generalized
	metabolism/aminoacids
Type	disease

Remark(s)