Article
Mitochondrial disorder associated with newborn cardiopulmonary arrest.
Pediatric research - 1 May 1993
Yoon K L, Ernst S G, Rasmussen C, Dooling E C, Aprille J R
Abstract excerpt
A female infant who died 2.5 d after birth with hypoglycemia, lactic acidosis, and sudden multisystem failure was studied. Biochemical studies showed complex III and IV deficiency in liver, kidney, and muscle, with muscle most severely affected. Southern blot analysis of the patient's mitochondri...
Topics
- Adult
- Animals
- Base Sequence
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- Heart Arrest
- Humans
- Infant, Newborn
- Mitochondria
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Pregnancy
- RNA, Transfer, Thr
- Sequence Homology, Nucleic Acid