Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare diseases. The human genome encodes three DNA ligases, of which only one, ligase III (LIG3), has a mitochondrial splice variant and is crucial...

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Veröffentlicht in:	BRAIN 2021-04, Vol.144 (5), p.1451-1466
Hauptverfasser:	Bonora, Elena, Chakrabarty, Sanjiban, Kellaris, Georgios, Tsutsumi, Makiko, Bianco, Francesca, Bergamini, Christian, Ullah, Farid, Isidori, Federica, Liparulo, Irene, Diquigiovanni, Chiara, Masin, Luca, Rizzardi, Nicola, Cratere, Mariapia Giuditta, Boschetti, Elisa, Papa, Valentina, Maresca, Alessandra, Cenacchi, Giovanna, Casadio, Rita, Martelli, Pierluigi, Matera, Ivana, Ceccherini, Isabella, Fato, Romana, Raiola, Giuseppe, Arrigo, Serena, Signa, Sara, Sementa, Angela Rita, Severino, Mariasavina, Striano, Pasquale, Fiorillo, Chiara, Goto, Tsuyoshi, Uchino, Shumpei, Oyazato, Yoshinobu, Nakamura, Hisayoshi, Mishra, Sushil K, Yeh, Yu-Sheng, Kato, Takema, Nozu, Kandai, Tanboon, Jantima, Morioka, Ichiro, Nishino, Ichizo, Toda, Tatsushi, Goto, Yu-ichi, Ohtake, Akira, Kosaki, Kenjiro, Yamaguchi, Yoshiki, Nonaka, Ikuya, Iijima, Kazumoto, Mimaki, Masakazu, Kurahashi, Hiroki, Raams, Anja, MacInnes, Alyson, Alders, Mariel, Engelen, Marc, Linthorst, Gabor, de Koning, Tom, den Dunnen, Wilfred, Dijkstra, Gerard, van Spaendonck, Karin, van Gent, Dik C, Aronica, Eleonora M, Picco, Paolo, Carelli, Valerio, Seri, Marco, Katsanis, Nicholas, Duijkers, Floor A.M, Taniguchi-Ikeda, Mariko, De Giorgio, Roberto
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Sprache:	eng
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