Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II. [electronic resource]
- American journal of medical genetics Jul 2001
- 95-9 p. digital
Publication Type: Case Reports; Journal Article
0148-7299
10.1002/1096-8628(20010722)102:1<95::aid-ajmg1412>3.0.co;2-u doi
Acidosis, Lactic--genetics Base Sequence DNA Mutational Analysis DNA, Mitochondrial--chemistry Electron Transport Complex IV--genetics Family Health Fatal Outcome Female Frameshift Mutation Humans Infant, Newborn Infant, Premature Male Pedigree