Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene

Mauring, L; Puusepp, S; Parik, M; Roomets, E; Teek, R; Reimand, T; Pajusalu, S; Kaljurand, K; Ounap, K

Mauring, L (通讯作者)，L Puusepa 2, EE-50406 Tartu, Estonia.

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2023; 66 (9):

Abstract

Recently, Stenton et al. (2021) described a new, autosomal recessive inheritance pattern of Leber's hereditary optic neuropathy (LHON) caused by misse......

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