- Abstract:
-
OBJECTIVES: Homoplasmic maternally inherited, m.14674T>C or m. 14674T>G mt-tRNA(Glu) mutations have recently been identified in reversible infantile cytochrome c oxidase deficiency (or 'benign COX deficiency'). This study sought other genetic defects that may give rise to similar presentations. PATIENTS: Eight patients from seven families with clinicopathological features of infantile reversible cytochrome c oxidase deficiency were investigated. METHODS: The study reviewed the diagnosti...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1136/jmg.2011.089995
-
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- Journal:
- Journal of medical genetics
- Volume:
- 48
- Issue:
- 10
- Pages:
- 660-668
- Publication date:
- 2011-10-05
- DOI:
- EISSN:
-
1468-6244
- ISSN:
-
0022-2593
- URN:
-
uuid:112ea3c3-8214-4704-9fbb-5014e522ddc7
- Source identifiers:
-
180413
- Local pid:
- pubs:180413
- Language:
- English
- Keywords:
- Copyright date:
- 2011
Journal article
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
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