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Article

A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy.

Journal of the neurological sciences - 15 May 2010

Chae Jong-Hee, Lim Byung Chan, Cheong Hae Il, Hwang Yong Seung, Kim Ki Joong, Hwang Hee

Abstract excerpt

A 26-month-old child presented with an unusual combination of growth retardation, renal proximal tubulopathy, hypoparathyroidism, and episodic encephalopathy with fever and lethargy. Muscle biopsy revealed defects of mitochondrial respiratory chain enzyme complexes I, III, and IV, but no ragged-red fibers or cytochrome c oxidase deficient fibers. Analysis of muscle mitochondrial DNA (mtDNA) showed a heteroplasmic...

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Identifiers

PMID: 20226471
DOI: 10.1016/j.jns.2010.02.006

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