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GENATLAS PHENOTYPE

last update : 19/07/2006

Symbol	MCTD
Location	1p13.2
Name	monocarboxylic acid transporter deficiency
Other name(s)	erythrocyte lactate transporter defect
Corresponding gene	SLC16A1
Main clinical features	brief episodes of severe, diffuse pain after exercise, with deficiency of lactate transporter in both striated muscles and red blood
Genetic determination
Function/system disorder	metabolism/lipoprotein-lipid
Type	disease

Remark(s)