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Article

A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.

The Turkish journal of pediatrics - 7 Oct 2024

Büyükyılmaz Gönül, İnözü Mihriban, Çavdarlı Büşranur

Abstract excerpt

BACKGROUND: The mitochondrial DNA (mtDNA) m.3243A>G mutation is one of the most common pathogenic mtDNA variants. The phenotypes associated with this mutation range from asymptomatic induviduals to well-defined clinical syndromes, or non-syndromic mitochondrial disorders. Variable clinical features in pediatric cases may cause difficulty in diagnosis. Kidney involvement in this mutation is uncommon and reported...

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Identifiers

PMID: 39387423
DOI: 10.24953/turkjpediatr.2024.4702

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