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Article

Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.

Pediatric nephrology (Berlin, Germany) - 1 Mar 2013

D'Aco Kristin E, Manno Megan, Clarke Colleen, Ganesh Jaya, Meyers Kevin E C, Sondheimer Neal

Abstract excerpt

BACKGROUND: We identified a mitochondrial tRNA mutation (m.586 G > A) in a patient with renal failure and symptoms consistent with a mitochondrial cytopathy. This mutation was of unclear significance due to the absence of consistent reports of linkage to specific disease phenotypes and any data pertaining to its effects on mitochondrial function. CASE-DIAGNOSIS/TREATMENT: A 16-month-old girl with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23135609
DOI: 10.1007/s00467-012-2354-y
PMCID: PMC3557766

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