Open AccessAB055. HADHB mutations in a child with suspected metabolic myopathy
Author(s) -
Jin Sook Lee,
JongHee Chae
Publication year - 2017
Publication title -
annals of translational medicine
Language(s) - English
Resource type - Journals
eISSN - 2305-5847
pISSN - 2305-5839
DOI - 10.21037/atm.2017.s055
Subject(s) - rhabdomyolysis , myopathy , medicine , proband , carnitine , mitochondrial myopathy , exercise intolerance , propionic acidemia , myalgia , compound heterozygosity , beta oxidation , endocrinology , gastroenterology , mutation , genetics , biology , gene , mitochondrial dna , metabolism , heart failure
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