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Article

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.

American journal of medical genetics. Part A - 1 Dec 2003

Scaglia Fernando, Vogel Hannes, Hawkins Edith P, Vladutiu Georgirene D, Liu Ling-Ling, Wong Lee-Jun C

Abstract excerpt

We report a 9-year-old girl with a mitochondrial cytopathy preceded by steroid-resistant focal segmental glomerulosclerosis (FSGS). The proband presented at the age of 2 years with steroid-resistant nephrotic syndrome caused by FSGS. Her renal function progressively deteriorated and a dilated car...

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Source

Identifiers

PMID: 14598342
DOI: 10.1002/ajmg.a.20315

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14598342-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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