Abstract
A 3-day-old girl had a syndrome of lethargy and lactic acidosis. Pregnancy and delivery had been normal; there was no consanguinity or family history of neuromuscular disease. At age 41/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 81/2 months of cardiac arrest. Results from a muscle biopsy specimen obtained at age 41/2 months showed ragged-red fibers and increased glycogen and lipid droplets. With the cytochrome c oxidase reaction, only 5% of the fibers stained positively in the biopsy specimen. Cytochrome c oxidase activity was 7.3% of normal in muscle mitochondria and 12.2% of normal in heart mitochondria. Reduced-minus-oxidized cytochrome spectra showed lack of the cytochrome aa3 peak. Immunotitration using antibodies against purified human heart cytochrome c oxidase showed normal amount of cross-reacting material in both heart and muscle. The genetic error could have involved a cytochrome c oxidase isozyme common to heart and muscle.
| Original language | English |
|---|---|
| Pages (from-to) | 1198-1202 |
| Number of pages | 5 |
| Journal | Archives of Neurology |
| Volume | 43 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - 1986 |
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ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology
- Neuroscience(all)
Cite this
Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency. / Zeviani, Massimo; Van Dyke, David H.; Servidei, Serenella; Bauserman, Steven C.; Bonilla, Eduardo; Beaumont, Edgar T.; Sharda, Joan; Vander-Laan, Karen; Dimauro, Salvatore.
In: Archives of Neurology, Vol. 43, No. 11, 1986, p. 1198-1202.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Myopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency
AU - Zeviani, Massimo
AU - Van Dyke, David H.
AU - Servidei, Serenella
AU - Bauserman, Steven C.
AU - Bonilla, Eduardo
AU - Beaumont, Edgar T.
AU - Sharda, Joan
AU - Vander-Laan, Karen
AU - Dimauro, Salvatore
PY - 1986
Y1 - 1986
N2 - A 3-day-old girl had a syndrome of lethargy and lactic acidosis. Pregnancy and delivery had been normal; there was no consanguinity or family history of neuromuscular disease. At age 41/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 81/2 months of cardiac arrest. Results from a muscle biopsy specimen obtained at age 41/2 months showed ragged-red fibers and increased glycogen and lipid droplets. With the cytochrome c oxidase reaction, only 5% of the fibers stained positively in the biopsy specimen. Cytochrome c oxidase activity was 7.3% of normal in muscle mitochondria and 12.2% of normal in heart mitochondria. Reduced-minus-oxidized cytochrome spectra showed lack of the cytochrome aa3 peak. Immunotitration using antibodies against purified human heart cytochrome c oxidase showed normal amount of cross-reacting material in both heart and muscle. The genetic error could have involved a cytochrome c oxidase isozyme common to heart and muscle.
AB - A 3-day-old girl had a syndrome of lethargy and lactic acidosis. Pregnancy and delivery had been normal; there was no consanguinity or family history of neuromuscular disease. At age 41/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 81/2 months of cardiac arrest. Results from a muscle biopsy specimen obtained at age 41/2 months showed ragged-red fibers and increased glycogen and lipid droplets. With the cytochrome c oxidase reaction, only 5% of the fibers stained positively in the biopsy specimen. Cytochrome c oxidase activity was 7.3% of normal in muscle mitochondria and 12.2% of normal in heart mitochondria. Reduced-minus-oxidized cytochrome spectra showed lack of the cytochrome aa3 peak. Immunotitration using antibodies against purified human heart cytochrome c oxidase showed normal amount of cross-reacting material in both heart and muscle. The genetic error could have involved a cytochrome c oxidase isozyme common to heart and muscle.
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U2 - 10.1001/archneur.1986.00520110084025
DO - 10.1001/archneur.1986.00520110084025
M3 - Article
VL - 43
SP - 1198
EP - 1202
JO - Archives of Neurology
JF - Archives of Neurology
SN - 0003-9942
IS - 11
ER -