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Journal article

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

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...

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Publication status:
Published

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Publisher copy:
10.1136/jmg.2011.089995

Authors


Uusimaa, J More by this author
Jungbluth, H More by this author
Fratter, C More by this author
Crisponi, G More by this author
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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

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