[A case of mitochondrial encephalomyopathy with cardiomyopathy due to decreased complex I and IV activities].
We reported a girl with mitochondrial encephalomyopathy, who had various neuromuscular symptoms including dilated cardiomyopathy, generalized convulsions, myoclonus, muscular weakness and growth retardation. Lactate levels in the serum and CSF were elevated. Muscle biopsy showed scattered ragged-red fibers, and complex I (NADH-CoQ reductase) and complex IV (cytochrome c oxidase) were markedly reduced. Although she was treated with coenzyme Q, DL-carnitine and sodium succinate, she died of progressive congestive heart failure at 9 10/12 years of age.
Kajiyama
M
M
Kawamura
I
I
Fujita
A
A
Hamamoto
K
K
Nishi
Y
Y
Kitano
A
A
Matsuda
I
I
Ohtani
Y
Y
Miike
T
T
D002311:Cardiomyopathy, Dilated / Q000201:enzymology*; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006130:Growth Disorders; D006801:Humans; D008929:Mitochondria, Heart / Q000378:metabolism; D008931:Mitochondria, Muscle / Q000378:metabolism; D009207:Myoclonus; D016660:NAD(P)H Dehydrogenase (Quinone); D009468:Neuromuscular Diseases / Q000201:enzymology*; D011808:Quinone Reductases; D012640:Seizures
D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases