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Article

Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.

Journal of child neurology - 1 Feb 2013

Shanske Sara, Naini Ali, Chmait Ramen H, Akman Hasan O, Mansukhani Mahesh, Lu Jiesheng, Hirano Michio, DiMauro Salvatore

Abstract excerpt

Prenatal diagnosis of disorders due to mitochondrial DNA (mtDNA) tRNA gene mutations is problematic. Experience in families harboring the protein-coding ATPase 6 m.8993T>G mutation suggests that the mutant load is homogeneous in different tissues, thus allowing prenatal diagnosis. We have encountered a novel protein-coding gene mutation, m.10198C>T in MT-ND3. A baby girl homoplasmic for this mutation died at 3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22532554
DOI: 10.1177/0883073812441067
PMCID: PMC3959766

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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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