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Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.

Scientific reports - 11 Feb 2021

Akiyama Nana, Shimura Masaru, Yamazaki Taro, Harashima Hiroko, Fushimi Takuya, Tsuruoka Tomoko, Ebihara Tomohiro, Ichimoto Keiko, Matsunaga Ayako, Saito-Tsuruoka Megumi, Yatsuka Yukiko, Kishita Yoshihito, Kohda Masakazu, Namba Akira, Kamei Yoshimasa, Okazaki Yasushi, Kosugi Shinji, Ohtake Akira, Murayama Kei

Abstract excerpt

Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in Japan. A comprehensive genomic analysis was performed to diagnose more than 400 patients, of which, 13 families (16 cases)...

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Identifiers

PMID: 33574353
DOI: 10.1038/s41598-021-81015-y
PMCID: PMC7878886

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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