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Article

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.

Gene - 15 Feb 2013

Atay Zeynep, Bereket Abdullah, Turan Serap, Haliloglu Belma, Memisoglu Aslı, Khayat Morad, Shalev Stavit A, Spiegel Ronen

Abstract excerpt

Mutations in the TMEM70 gene are the most common cause of nuclear encoded ATP synthase deficiency resulting in a syndrome characterized by neonatal lactic acidosis, cardiomyopathy, and encephalomyopathy. Here we report on the first Turkish patient who presented after birth with lactic acidemia, severe hpotonia, hypertrophic cardiomyopathy and bilateral congenital cataract. TMEM70 genetic analysis revealed the...

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Source

Identifiers

PMID: 23235116
DOI: 10.1016/j.gene.2012.11.044

Genes

TMEM70

Variants

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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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