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Article

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.

Molecular genetics and metabolism - 1 Jan 2013

Honzik Tomas, Tesarova Marketa, Vinsova Kamila, Hansikova Hana, Magner Martin, Kratochvilova Hana, Zamecnik Josef, Zeman Jiri, Jesina Pavel

Abstract excerpt

We report the second known family with a very rare, maternally inherited missense m.8851T>C mutation in the mitochondrial MTATP6 gene. A failure to thrive, microcephaly, psychomotor retardation and hypotonia were present in a 3-year-old girl with a high mtDNA mutation load (87-97%). Ataxia and Le...

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Identifiers

PMID: 23206802
DOI: 10.1016/j.ymgme.2012.11.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23206802-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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