Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria.
Besley
G T
GT
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK.
Lendon
M
M
Broadhead
D M
DM
Till
J
J
Heptinstall
L E
LE
Phillips
B
B
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D009202:Cardiomyopathies / Q000150:complications*; D002648:Child; D004252:DNA Mutational Analysis; D004579:Electron Transport; D017809:Fatal Outcome; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology*; D017240:Mitochondrial Myopathies / Q000150:complications / Q000201:enzymology* / Q000235:genetics
D005977:Glutarates; C022034:3-methylglutaconic acid