[Mitochondrial myopathy with increased blood lactate and pyruvate levels among siblings in familial thiamine deficiency].
D000293:Adolescent; D000328:Adult; D006801:Humans; D007773:Lactates / Q000097:blood*; D008297:Male; D008931:Mitochondria, Muscle / Q000473:pathology*; D009132:Muscles / Q000201:enzymology; D009135:Muscular Diseases / Q000235:genetics*; D011767:Pyruvate Decarboxylase / Q000378:metabolism; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism; D011773:Pyruvates / Q000097:blood*; D013832:Thiamine Deficiency / Q000097:blood / Q000235:genetics*
D007773:Lactates; D011768:Pyruvate Dehydrogenase Complex; D011773:Pyruvates; D011767:Pyruvate Decarboxylase