Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.

Tomohiro Ebihara Taro Nagatomo Yohei Sugiyama Tomoko Tsuruoka Yoshiteru Osone Masaru Shimura Makiko Tajika Tetsuro Matsuhashi Keiko Ichimoto Ayako Matsunaga Nana Akiyama Minako Ogawa-Tominaga Yukiko Yatsuka Kazuhiro R Nitta Yoshihito Kishita Takuya Fushimi Atsuko Imai-Okazaki Akira Ohtake Yasushi Okazaki Kei Murayama

Published in: Archives of disease in childhood. Fetal and neonatal edition (2021)

Neonatal-onset mitochondrial disease has a heterogenous aetiology. The number of diagnoses can be increased, and clarity regarding prognosis can be achieved by comprehensive biochemical and molecular analyses using appropriate tissue samples.

Keyphrases

oxidative stress
single molecule