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Article

Mitochondrial tubulopathy: the many faces of mitochondrial disorders.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2001

Lee Y S, Yap H K, Barshop B A, Lee Y S, Rajalingam S, Loke K Y

Abstract excerpt

We report a rare presentation of mitochondrial disorder in a child with recurrent carpopedal spasms due to hypocalcemia and hypomagnesemia, secondary to renal proximal tubulopathy and possible hypoparathyroidism. At least two mutant mitochondrial DNA species were identified, and abnormal mitochondria were found in the muscle and renal biopsy specimens. The case illustrates the spectrum and diversity of...

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Identifiers

PMID: 11511982
DOI: 10.1007/s004670100637

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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